There is a paucity of data regarding the risk of fetal loss due to invasive prenatal diagnosis in twins. The aim of the present study is to assess the rate of amniocentesis-related fetal loss in uncomplicated dichorionic-diamniotic (DCDA) twin pregnancies.

Retrospective observational case-control study. DCDA twin pregnancies undergoing amniocentesis between January 2010 and December 2023 formed the case group. The control group comprised counterparts who did not undergo amniocentesis. The primary outcome of the study was procedure-related fetal loss. Secondary outcomes were miscarriage rate, overall fetal loss and gestational age at birth.

Our dataset included 220 and 662 women in the case and control groups, respectively. No difference in the primary outcome was found: procedure-related fetal loss of one fetus was 0.9% in the case group and 1.1% in the control group, and of both fetuses it was 0.5% in both groups (p = 0.982). No difference was found in secondary outcomes: the fetal loss rate of one fetus was 1.8% in the case group and 2.1% in the control group, while that of both fetuses it was 0.5% and 0.8% respectively (p = 0.853). Multivariate analysis confirmed the nonsignificant effect of amniocentesis on the risk of fetal loss.

Amniocentesis does not seem to increase the risk of fetal loss in uncomplicated DCDA twin pregnancies above the baseline risk of loss among twin gestations.

EMR and endoscopic submucosal dissection (ESD) are minimally invasive endoscopic techniques, developed for the removal of benign and early malignant lesions throughout the GI tract. Submucosal injection of a marking agent can help to identify lesions during surgery. Endoscopic resection frequently involves "lifting" of the lesions by injection of a substance within the submucosal space to create a cushion for safe resection. This review summarizes the current techniques and agents available for endoscopic marking and lifting of GI tract lesions.

The MEDLINE database was searched through April 2023 for relevant articles related to the lifting and marking aspect of EMR by using key words such as "endoscopy" or "endoscopic" combined with "marking," "tattoo," and "lifting." The report was drafted, reviewed, and edited by the American Society for Gastrointestinal Endoscopy Technology Committee and approved by the Governing Board of the American Society for Gastrointestinal Endoscopy.

This technology review describes the techniques for endoscopic tattoo placement and submucosal lifting, along with currently available agents, safety, and costs.

Endoscopists performing EMR and ESD have several choices in submucosal injection materials for lifting and marking agents for tattoos. These may be commercially prepared agents or off-the-shelf materials with or without additives to facilitate visualization. A thorough understanding of the indications, techniques, properties of various agents, costs, and adverse events is necessary in choosing the appropriate materials and technique to optimize lesion resection in EMR and ESD.

There is an increasing demand for prenatal diagnostic testing in twin pregnancies, however, anecdotally there is a higher incidence of procedure-related complications after amniocentesis than that in singleton pregnancies. There is a paucity of data regarding risk factors of amniocentesis in twin pregnancies.

Women with twin pregnancies who underwent amniocentesis between January 2016 and December 2020 were enrolled in this retrospective study. Procedure-related complications including spontaneous miscarriage, intrauterine fetal death, spontaneous preterm delivery, preterm premature rupture of membranes, and placental abruption in one or both fetuses after amniocentesis were assessed. Meanwhile, potential risk factors related to amniocentesis including chorionicity, gestational age, conception, number of needle insertions, parity, history of miscarriage, indications, and pregnancy-related complications (pregnancy-induced hypertension and gestational diabetes) were also recorded.

A total of 811 women with twin pregnancies underwent amniocentesis were included, with a procedure-related complications rate of 3.83%. Risk factors associated with increased risk of procedure-related complications after amniocentesis in twin pregnancies were chorionicity (adjusted odds ratio [aOR]: 4.06), gestational age at the procedure (aOR: 2.76), and numbers of needle insertions (aOR: 3.26). In the monochorionic twin pregnancy, hemorrhage during this pregnancy (aOR: 12.01), polyhydramnios (aOR: 5.03), and numbers of needle insertions (aOR: 3.15) were risk factors after amniocentesis. In the dichorionic twin pregnancy, gestational age at the procedure (OR:4.47) affected the risk of procedure-related complications after amniocentesis. In the subgroup of gestational age at the procedure ≤ 24+ 0 weeks, risk factors associated with increased risk of procedure-related complications after amniocentesis in twin pregnancies were chorionicity (aOR: 5.14), and numbers of needle insertions (aOR: 3.76).

The procedure-related complications rate is 3.83% in our institution during the study period. The present study has emphasized the significance of certain risk factors for adverse outcome and will be useful in counseling patients with twin pregnancies.

Diagnostic puncture (amniocentesis, chorionic villus sampling, and fetal blood sampling) is an essential part of prenatal diagnostics and the only established and sufficiently scientifically evaluated possibility of diagnosing genetic diseases from pregnancy-specific cells. The number of diagnostic punctures in Germany, as in other countries, has fallen significantly. This is largely due to the introduction of first-trimester screening with further detailed ultrasound examination of the fetus and the analysis of cf-DNA (cell-free DNA) from maternal blood (noninvasive prenatal test - NIPT). On the other hand, knowledge about the incidence and appearance of genetic diseases has increased. The development of modern molecular genetic techniques (microarray and exome analysis) makes a differentiated investigation of these diseases increasingly possible. The requirements for education and counseling regarding these complex correlations have thus increased. The studies performed in recent years make it clear that diagnostic puncture performed in expert centers is associated with a low risk of complications. In particular, the procedure-related miscarriage risk hardly differs from the background risk for spontaneous abortion. In 2013, the Section of Gynecology and Obstetrics of the German Society for Ultrasound in Medicine (DEGUM) published recommendations on diagnostic puncture in prenatal medicine 1. The developments described above and new findings in recent years make it necessary to revise and reformulate these recommendations. The aim of this review is to compile important and current facts regarding prenatal medical puncture (including technique, complications, genetic examinations). It is intended to provide basic, comprehensive, and up-to-date information on diagnostic puncture in prenatal medicine. It replaces the publication from 2013 1.

This study aims to determine if second trimester amniocentesis in twin pregnancies provides a significant independent contribution in the prediction of miscarriage or fetal loss at any stage of pregnancy. This was a retrospective cohort study of women with twin gestations booked for routine prenatal care in four fetal medicine units in Poland in the years 2010-2020. The study population included: (1) twin pregnancies that underwent amniocentesis at 16-20 weeks' gestation; (2) twin pregnancies that did not require any further testing and were followed-up routinely. Univariable and multivariable regression analysis was used to define which maternal and pregnancy characteristics provided a significant independent contribution in the prediction of miscarriage and fetal loss at any stage of pregnancy. In the study period, 2645 twin pregnancies were eligible for analysis. There were 144 cases of miscarriage defined as fetal loss of one or both twins before 24 weeks and 40 cases of intrauterine death of one or both twins after 24 weeks. A total number of 162 twin pregnancies underwent amniocentesis at 16-20 weeks' gestation. The rate of miscarriage before 24 weeks and the rate of fetal loss at any stage of pregnancy in the group that underwent amniocentesis was 10.49% and 13.58%, respectively, compared to 5.11% and 6.52% that did not undergo amniocentesis. Multivariable regression analysis showed that factors providing a significant independent contribution in the prediction of miscarriage and fetal loss at any stage of pregnancy were monochorionicity (MC), large intertwin discordance in crown-rump length (CRL), low Pregnancy Related Plasma Protein (PAPP-A) MoM and nuchal translucency (NT) above 95th centile. Amniocentesis in twin pregnancies does not provide a significant contribution in the prediction of miscarriage or fetal loss at any stage of pregnancy.

All pregnant women should be offered screening for aneuploidy. Twin pregnancies present unique challenges in aneuploidy screening. This review describes available aneuploidy screening options and their benefits and limitations in twin pregnancy, along with describing special circumstances, such as vanishing twins and diagnostic testing in twin pregnancy. No method of aneuploidy screening is as accurate in twin pregnancies as singleton pregnancies. Cell-free DNA screening should be considered a first-line approach; however, this option may not be available or may have limitations in certain clinical scenarios, such as vanishing twins. If cell-free DNA screening is not available, nuchal translucency and/or maternal serum marker screening can be offered.

The incidence of multifetal gestations in the United States has increased dramatically over the past several decades. For example, the rate of twin births increased 76% between 1980 and 2009, from 18.9 to 33.3 per 1,000 births (1). However, after more than three decades of increases, the twin birth rate declined 4% during 2014-2018 to 32.6 twins per 1,000 total births in 2018 (2). The rate of triplet and higher-order multifetal gestations increased more than 400% during the 1980s and 1990s, peaking at 193.5 per 100,000 births in 1998, followed by a modest decrease to 153.4 per 100,000 births by 2009 (3). The triplet and higher-order multiple birth rate was 93.0 per 100,000 births for 2018, an 8% decline from 2017 (101.6) and a 52% decline from the 1998 peak (193.5) (4). The long-term changes in the incidence of multifetal gestations has been attributed to two main factors: 1) a shift toward an older maternal age at conception, when multifetal gestations are more likely to occur naturally, and 2) an increased use of assisted reproductive technology (ART), which is more likely to result in a multifetal gestation (5). A number of perinatal complications are increased with multiple gestations, including fetal anomalies, preeclampsia, and gestational diabetes. One of the most consequential complications encountered with multifetal gestations is preterm birth and the resultant infant morbidity and mortality. Although multiple interventions have been evaluated in the hope of prolonging these gestations and improving outcomes, none has had a substantial effect. The purpose of this document is to review the issues and complications associated with twin, triplet, and higher-order multifetal gestations and present an evidence-based approach to management.

The Korean Society of Maternal Fetal Medicine proposed the first Korean guideline on prenatal aneuploidy screening and diagnostic testing, in April 2019. The clinical practice guideline (CPG) was developed for Korean women using an adaptation process based on good-quality practice guidelines, previously developed in other countries, on prenatal screening and invasive diagnostic testing for fetal chromosome abnormalities. We reviewed current guidelines and developed a Korean CPG on invasive diagnostic testing for fetal chromosome abnormalities according to the adaptation process. Recommendations for selected 11 key questions are: 1) Considering the increased risk of fetal loss in invasive prenatal diagnostic testing for fetal genetic disorders, it is not recommended for all pregnant women aged over 35 years. 2) Because early amniocentesis performed before 14 weeks of pregnancy increases the risk of fetal loss and malformation, chorionic villus sampling (CVS) is recommended for pregnant women who will undergo invasive prenatal diagnostic testing for fetal genetic disorders in the first trimester of pregnancy. However, CVS before 9 weeks of pregnancy also increases the risk of fetal loss and deformity. Thus, CVS is recommended after 9 weeks of pregnancy. 3) Amniocentesis is recommended to distinguish true fetal mosaicism from confined placental mosaicism. 4) Anti-immunoglobulin should be administered within 72 hours after the invasive diagnostic testing. 5) Since there is a high risk of vertical transmission, an invasive prenatal diagnostic testing is recommended according to the clinician's discretion with consideration of the condition of the pregnant woman. 6) The use of antibiotics is not recommended before or after an invasive diagnostic testing. 7) The chromosomal microarray test as an alternative to the conventional cytogenetic test is not recommended for all pregnant women who will undergo an invasive diagnostic testing. 8) Amniocentesis before 14 weeks of gestation is not recommended because it increases the risk of fetal loss and malformation. 9) CVS before 9 weeks of gestation is not recommended because it increases the risk of fetal loss and malformation. 10) Although the risk of fetal loss associated with invasive prenatal diagnostic testing (amniocentesis and CVS) may vary based on the proficiency of the operator, the risk of fetal loss due to invasive prenatal diagnostic testing is higher in twin pregnancies than in singleton pregnancies. 11) When a monochorionic twin is identified in early pregnancy and the growth and structure of both fetuses are consistent, an invasive prenatal diagnostic testing can be performed on one fetus alone. However, an invasive prenatal diagnostic testing is recommended for each fetus in cases of pregnancy conceived via in vitro fertilization, or in cases in which the growth of both fetuses differs, or in those in which at least one fetus has a structural abnormality. The guidelines were established and approved by the Korean Academy of Medical Sciences. This guideline is revised and presented every 5 years.

To assess and compare fetal loss rates before 28 weeks of singleton and twin pregnancies after mid-trimester amniocentesis.

This historic cohort study included 13 773 women with singletons and 426 women with twins undergoing mid-trimester amniocentesis from 1/2015 to 3/2017. Pregnancies resulting in termination or selective reduction before 28 weeks were excluded, as well as twin gestations undergoing single-puncture amniocentesis. Fetal loss rates were compared between singleton and twins taking into account maternal characteristics, amniocentesis procedure, and fetal chromosomal abnormalities.

The rates of fetal chromosomal abnormalities were similar in singleton and twin gestations (1.13% vs 0.70%, P = .253). No difference was found in maternal or fetal characteristics, or amniocentesis procedure between the two groups. The fetal loss rate was significantly higher in twin compared with singleton pregnancies (1.91% vs 0.24%, P < .001, RR = 8.25 [95% CI: 4.51 to 15.09]). The fetal loss rate between monochorionic twins and dichorionic twins was similar (1.80% vs 1.78%, P = 1.000).

Twin pregnancies have higher risk of fetal loss after mid-trimester amniocentesis, which cannot be explained by differences in rates of fetal chromosomal abnormalities, maternal characteristic, or amniocentesis technique.

To assess the amniocentesis-related pregnancy loss rate and preterm birth rate among twin pregnancies undergoing amniocentesis.

A retrospective cohort study was conducted at a tertiary center. The study group included twin pregnancies undergoing amniocentesis during 16 to 22 weeks of gestation. The control group was those not undergoing amniocentesis. All amniocenteses were performed by the MFM specialists. The main outcomes were the rate of pregnancy loss (before 24 weeks) and preterm birth.

A total of 332 cases in the study group and 1188 controls were analyzed. The percentages of maternal age ≥35 years, high parity, and cases complicated with medical diseases were significantly higher in the study group. The pregnancy loss rate after the procedure tended to be higher, but not significant, in the study group (3.0% vs 2.2% P = .383). Likewise, the rate of preterm birth in the study group was higher, but not significant (70.5% vs 66.0% P = .130). Logistic regression analysis to adjust confounding factors showed no significance of amniocentesis on pregnancy loss and preterm birth.

Though amniocentesis in twin pregnancies has theoretical risk of pregnancy loss, it is relatively safe when performed by maternal-fetal medicine specialists. This information is useful for counseling, especially when performed by experienced hands.

Prenatal diagnostic testing by chorionic villus sampling (CVS) is sometimes recommended for women with twin pregnancies. However, few studies have compared the outcomes between twins with CVS and control twins without intervention. This study aimed to compare the obstetrical outcomes of CVS in twin pregnancies and those in non-intervention twin pregnancies.

First-trimester transabdominal CVS was performed on dichorionic-diamniotic twins (n = 54; Group 1) between December 2006 and January 2017 at the Department of Obstetrics and Gynecology at our hospital, and the data were retrospectively analyzed. CVS risks were evaluated by comparing obstetrical outcomes with those of a control population of 155 dichorionic-diamniotic twins without intervention (Group 2).

The difference in the overall fetal loss rate (Group 1, 7.4% vs Group 2, 3.9%; P = 0.287) between the two groups was not statistically significant. The miscarriage rate, defined as delivery at <24 gestational weeks, and early preterm delivery, defined as delivery at <34 gestational weeks, were not significant between the groups (miscarriage: Group 1, 5.6% vs Group 2, 3.2%; P = 0.428; early preterm delivery: Group 1, 11.1% vs Group 2, 9.0%; P = 0.788). The mean gestational age at delivery, birth weights and neonatal intensive care unit admission rate were not statistically significant between the groups. Thus, the overall fetal loss rate and obstetrical outcomes of Group 1 were comparable with those of Group 2.

In conclusion, the overall obstetrical outcomes were not significantly different between twins with CVS and control twins with the advantage of enabling early decision-making about selective feticide in twins with CVS.

Under certain situations, women with twin pregnancies may be counseled to undergo invasive prenatal diagnostic testing. Chorionic villus sampling and amniocentesis are the two generally performed invasive prenatal diagnostic tests. Studies comparing procedure-related fetal loss between first-trimester chorionic villus sampling and second-trimester amniocentesis in twin pregnancies are limited. This study aimed to evaluate the procedure-related fetal loss and the obstetrical outcomes of these two procedures, chorionic villus sampling and amniocentesis in twin pregnancies.

The data from dichorionic-diamniotic twin pregnancies on which first-trimester chorionic villus sampling (n = 54) or second-trimester amniocentesis (n = 170) was performed between December 2006 and January 2017 in a single center were retrospectively analyzed. The procedure-related fetal loss was classified as loss of one or all fetuses within 4 weeks of procedure, and overall fetal loss was classified as loss of one or all fetuses during the gestation. The groups were compared with respect to the procedure-related and obstetrical outcomes.

The difference in proportion of procedure-related fetal loss rate (1.9% for chorionic villus sampling vs. 1.8% for amniocentesis; P = 1.000) and the overall fetal loss rate (7.4% for chorionic villus sampling vs. 4.7% for amniocentesis; P = 0.489) between the two groups was not significant. The mean gestational ages at delivery were not statistically significant.

Both the overall fetal loss rate and the procedure-related fetal loss rate of chorionic villus sampling and amniocentesis in dichorionic twin pregnancies had no statistical significance. Both procedures can be safely used individually.

Offrir aux fournisseurs de soins de maternité et à leurs patientes des lignes directrices factuelles contemporaines en ce qui concerne les services de counseling traitant des risques et des avantages maternels propres à la tenue des interventions diagnostiques prénatales orientées par échographie (et/ou des techniques permettant l'établissement d'un diagnostic génétique) nécessaires dans les cas où il a été établi pendant la période prénatale que la grossesse serait exposée à des risques, ainsi qu'en ce qui concerne la prise de décisions subséquentes quant à la prise en charge de la grossesse (questions abordant des aspects tels que le niveau du fournisseur de soins obstétricaux, la surveillance prénatale, le lieu où devraient se dérouler les soins et l'accouchement, et la décision de poursuivre ou d'interrompre la grossesse). La présente directive clinique se limite aux services de counseling traitant des risques et des avantages maternels, et aux décisions en matière de prise en charge de la grossesse pour les femmes qui nécessitent (ou qui envisagent) la mise en œuvre d'une intervention ou d'une technique effractive orientée par échographie aux fins de l'établissement d'un diagnostic prénatal.

Femmes enceintes identifiées, à la suite de la mise en œuvre de protocoles établis de dépistage prénatal (taux sériques maternels ± imagerie, résultats d'analyse de l'ADN acellulaire indiquant des risques élevés, résultats anormaux au moment de l'imagerie fœtale diagnostique ou antécédents familiaux de troubles héréditaires), comme étant exposées à un risque accru d'anomalie génétique fœtale. Ces femmes pourraient nécessiter ou demander des services de counseling au sujet des risques et des avantages pour la grossesse de la tenue d'une intervention effractive orientée par échographie visant à déterminer l'étiologie, le diagnostic, et/ou la pathologie de possibles anomalies fœtales. RéSULTATS: La littérature publiée a été récupérée par l'intermédiaire de recherches menées dans Medline, PubMed et The Cochrane Library jusqu'en juin 2014 au moyen d'un vocabulaire contrôlé (« prenatal diagnosis », « amniocentesis », « chorionic villi sampling », « cordocentesis ») et de mots clés (« prenatal screening », « prenatal genetic counselling », « post-procedural pregnancy loss rate ») appropriés. Les résultats ont été restreints aux analyses systématiques, aux études observationnelles et aux essais comparatifs randomisés / essais cliniques comparatifs publiés en anglais entre janvier 1985 et juin 2014. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu'en juin 2014. La littérature grise (non publiée) a été identifiée par l'intermédiaire de recherches menées dans les sites Web d'organismes s'intéressant à l'évaluation des technologies dans le domaine de la santé et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et auprès de sociétés de spécialité médicale nationales et internationales.

La qualité des résultats a été évaluée au moyen des critères décrits dans le rapport du Groupe d'étude canadien sur les soins de santé préventifs (Tableau 1). AVANTAGES, DéSAVANTAGES ET COûTS: Consentement éclairé de la patiente, transfert des connaissances, évaluation du risque génétique prénatal, soulagement de l'anxiété, création d'anxiété, défense des droits, compréhension du dépistage fœtal, limites du dépistage fœtal, choix en matière de prise en charge de la grossesse, complication de la grossesse ou fausse couche, soins opportuns et améliorés pour l'accouchement d'un enfant présentant une morbidité reconnue. RECOMMANDATIONS.

Transvaginal measurement of cervical length (CL) has been advocated as a screening tool to prevent preterm birth, but controversy remains regarding the overall utility of universal screening.

We aimed to evaluate the acceptability of a universal CL screening program. Additionally we evaluated risk factors associated with declining screening and subsequent delivery outcomes of women who accepted or declined screening.

This was a retrospective cohort study of transvaginal CL screening at a single institution from July 1, 2011, through December 31, 2014. Institutional protocol recommended transvaginal CL measurement at the time of anatomic survey between 17-23 weeks in all women with singleton, viable pregnancies, without current or planned cerclage, with patients able to opt out. Patients with CL ≤20 mm were considered to have clinically significant cervical shortening and were offered treatment. We assessed acceptance rate, risk factors for declining CL screening, and the trend of acceptance of CL screening over time. We also calculated the prevalence of CL ≤25, ≤20, and ≤15 mm, and estimated the association between CL screening and spontaneous preterm birth.

Of 12,740 women undergoing anatomic survey during the study period, 10,871 (85.3%; 95% confidence interval [CI], 84.7-85.9%) underwent CL screening. Of those, 215 (2.0%) had a CL ≤25 mm and 131 (1.2%) had a CL ≤20 mm. After the first 6 months of implementation, there was no change in rates of acceptance of CL screening over time (P for trend = .15). Women were more likely to decline CL screening if they were African American (adjusted odds ratio [aOR], 2.17; 95% CI, 1.93-2.44), obese (aOR, 1.18; 95% CI, 1.06-1.31), multiparous (aOR, 1.45; 95% CI, 1.29-1.64), age <35 years (aOR, 1.24; 95% CI, 1.08-1.43), or smokers (aOR, 1.42; 95% CI, 1.20-1.68). Rates of spontaneous preterm birth <28 weeks were higher in those who declined CL screening (aOR, 2.01; 95% CI, 1.33-3.02).

Universal CL screening was implemented successfully with 85% of women screened. Overall incidence of short cervix was low and women with significant risk factors for preterm birth were more likely to decline screening. Patients who declined CL screening were more likely to be African American, obese, multiparous, age <35 years, and smokers. Rates of early, but not late, spontaneous preterm birth were significantly higher among women who did not undergo CL screening.

Prenatal diagnostic testing is available for a growing number of disorders. The goal of prenatal diagnosis was initially focused on the identification of Down syndrome in women aged 35 years and older, but invasive prenatal genetic techniques can now detect a far broader array of conditions. The risks of invasive procedures have also decreased over time. Advances in genomic medicine allow testing for smaller but significant chromosomal abnormalities known as copy number variants, in addition to major aneuploidies and structural rearrangements. Molecular DNA techniques can detect many single-gene conditions. In the future, it is likely that whole-exome and whole-genome sequencing will be applied to prenatal genetic testing to allow identification of yet more genetic disorders. With advances in technology, the indications for testing have likewise evolved far beyond recommendations based solely on maternal age to include a more patient-centered view of the goals of prenatal testing.

The objective of this study was to provide a critical analysis of the impact of assisted conception on prenatal screening for Down syndrome (DS) in twin pregnancies and the value of various screening modalities for early detection of anomalies.

The literature was searched using PubMed and the Cochrane Library focusing on prenatal screening and antenatal care of assisted-conception twin pregnancies.

Serum screening alone is of limited value in detecting aneuploid twins, because the unaffected cotwin can "mask" the abnormal serum results of an affected one. In addition, this test can designate the pregnancy as at high risk but not identify the affected fetus. Nuchal translucency (NT) screening is the best available modality and a highly effective screening method for twin pregnancies. Among twins, NT alone has a 69% DS detection rate, first-trimester combined NT and serum biochemistry has a 72% DS detection rate, and an integrated screen will have an 80% DS detection rate at a 5% FPR. The data in the literature concerning the effect of assisted conception on maternal serum screening markers in twin pregnancies are scarce.

Down syndrome screening in assisted-conception twins presents clinical and technical challenges. Therefore, assisted-conception twins need close monitoring from conception to delivery, by a practitioner familiar with the available screening modalities and their relative accuracy.

To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome.

Population-based prevalence study based on EUROCAT congenital anomaly registries.

Eight European countries.

14.8 million births 1990-2009; 2.89% multiple births.

DS cases included livebirths, fetal deaths from 20 weeks, and terminations of pregnancy for fetal anomaly (TOPFA). Zygosity is inferred from like/unlike sex for birth denominators, and from concordance for DS cases.

Relative risk (RR) of DS per fetus/baby from multiple versus singleton pregnancies and per pregnancy in monozygotic/dizygotic versus singleton pregnancies. Proportion of prenatally diagnosed and pregnancy outcome.

Poisson and logistic regression stratified for maternal age, country and time.

Overall, the adjusted (adj) RR of DS for fetus/babies from multiple versus singleton pregnancies was 0.58 (95% CI 0.53-0.62), similar for all maternal ages except for mothers over 44, for whom it was considerably lower. In 8.7% of twin pairs affected by DS, both co-twins were diagnosed with the condition. The adjRR of DS for monozygotic versus singleton pregnancies was 0.34 (95% CI 0.25-0.44) and for dizygotic versus singleton pregnancies 1.34 (95% CI 1.23-1.46). DS fetuses from multiple births were less likely to be prenatally diagnosed than singletons (adjOR 0.62 [95% CI 0.50-0.78]) and following diagnosis less likely to be TOPFA (adjOR 0.40 [95% CI 0.27-0.59]).

The risk of DS per fetus/baby is lower in multiple than singleton pregnancies. These estimates can be used for genetic counselling and prenatal screening.

Prenatal screening for aneuploidy has changed significantly over the last 30 years, from being age-based to maternal serum and ultrasound based techniques. Multiple pregnancies present particular challenges with regards to screening as serum-based screening techniques are influenced by all feti while ultrasound-based techniques can be fetus specific. Tests currently available tend to not perform as well in multiple compared to singleton pregnancies. Considerations must be given to these variations when discussing and performing screening for aneuploidy in this situation. Prenatal invasive diagnosis techniques in multiple pregnancies bring their own challenges from a technical and counselling point of view, in particular with regards to sampling error, mapping and assignment of results and management of abnormal results. This review addresses these particular challenges and provides information to facilitate care.

To compare the rate of pregnancy loss between twin pregnancies undergoing a genetic amniocentesis (AC) and a control group with similar characteristics.

Prospective observational study on a population of twin pregnancies referred to our prenatal diagnosis unit for screening from 1990 to 2010. Those women referred for an AC were compared with those without indication for the procedure. Primary outcomes were pregnancy loss within the 4 weeks after procedure and pregnancy loss before 24 weeks. Secondary outcome included neonatal morbidity, gestational age at delivery and birth weight. results: Maternal characteristics were similar for both groups, except for maternal age. There was neither difference in the pregnancy loss rate within 4 weeks (2.7 versus 2.6%) nor in the loss rate before 24 weeks of gestation (1.2 versus 1.1%). Gestational age at birth was 36 weeks for both groups. Chorionicity and gestational age at procedure played no role in modifying the risk.

Based on our results, there is no difference in the pregnancy loss rate in twin gestations, regardless of chorionicity or gestational age at procedure, either within 4 weeks after the procedure or before 24 weeks, in patients who undergo AC when compared with patients who do not.

Accurate amniocentesis-related pregnancy loss (ARL) rates for twin gestations remains elusive because of varying ARL definitions in the literature. We examined how OB/GYNs define/counsel women carrying twins about ARL.

A random sample of 1000 American College of OB/GYN (ACOG) fellows and ACOG Collaborative Ambulatory Research Network (CARN) members were mailed surveys about their opinions/practice patterns regarding amniocentesis in twins. There were 208/400 (52%) CARN members and 166/600 (27%) ACOG fellows who returned the survey (37% response rate).

Of respondents, 80.8% practiced general OB/GYN, and 9.1% practiced maternal fetal medicine. Of respondents, 72% discussed amniocentesis for prenatal diagnosis. Of these, 91.7% discuss the risk of ARL; however, 47.4% do not quote an ARL rate. Of those who discuss ARL rates, 65% quote a rate greater than for singletons. Regarding monochorionic-diamniotic twins, 12.1% of respondents said the ARL rate was less, 39.6% said equal to, and 38.9% said greater than for dichorionic twins. Table 1 lists the most common clinical definitions/time intervals used to describe ARL.

Various definitions/ARL rates are used when counseling about ARL in twins. Further studies using a widely accepted definition of ARL are necessary to improve the counseling of women considering amniocentesis for prenatal diagnosis in twins.

To review the available evidence regarding pregnancy loss following first-trimester chorionic villus sampling (CVS) and mid-trimester genetic amniocentesis in twins.

We searched the MEDLINE database from January 1990 to May 2011 for randomized and cohort studies reporting on the risk of pregnancy loss after first-trimester CVS performed between 9 and 14 weeks and after genetic amniocentesis performed between 14 and 22 weeks. Where appropriate, we calculated pooled proportions and relative risks with 95% CI.

No randomized studies were found. For CVS, nine studies fulfilled the inclusion criteria. The overall pregnancy-loss rate was 3.84% (95% CI, 2.48-5.47; n = 4). The rate of pregnancy loss before 20 weeks was 2.75% (95% CI, 1.28-4.75; n = 3) and before 28 weeks was 3.44% (95% CI, 1.67-5.81; n = 3). For amniocentesis, the overall pregnancy-loss rate was 3.07% (95% CI, 1.83-4.61; n = 4). The rate of pregnancy loss before 20 weeks was 2.25% (95% CI, 1.23-3.57; n = 2), before 24 weeks was 2.54% (95% CI, 1.43-3.96; n = 9) and before 28 weeks was 1.70% (95% CI, 0.37-3.97; n = 5). Pooled data from four case-control studies showed a higher risk (2.59% vs. 1.53%) of pregnancy loss before 24 weeks following amniocentesis (relative risk = 1.81; 95% CI, 1.02-3.19). There were no statistically significant differences in reported pregnancy loss between transabdominal and transcervical approaches, use of a single-needle system vs. a double-needle system and single uterine entry vs. double uterine entry in the CVS group. Similarly, in the amniocentesis group, there was no statistically significant difference in fetal loss between the single uterine entry vs. the double uterine entry.

In the absence of randomized studies, it is not possible to estimate accurately the excess risk following invasive procedures in twins. Currently available data show similar overall pregnancy-loss rates for both amniocentesis and CVS with the excess risk of around 1% above the background risk.

Twin gestations face an increased risk of structural abnormalities compared with singleton gestations, as well as an increased risk of aneuploidy. Accordingly, there is a need for accurate prenatal diagnosis of fetal genetic disorders and structural anomalies in twin gestations. Given the increased risk of congenital anomalies, a detailed sonographic survey of fetal anatomy is recommended in the early second trimester of twin gestations. In addition, fetal echocardiography should be considered in monochorionic twin gestations and in dichorionic twin pregnancies conceived using assisted reproductive technologies given the increased risk of congenital heart disease in these populations. Although first- and second-trimester aneuploidy screening in twin gestations is available, screening is less accurate than in singleton gestations. Invasive prenatal diagnosis in twin pregnancies is associated with a risk of pregnancy loss that is higher than the baseline risk of loss among twin gestations. Precise procedure-related loss rates in twin gestations undergoing chorionic villus sampling or amniocentesis, however, remain unclear because of methodological differences between published studies investigating diagnostic procedures in twins.

Using published data, we sought to determine the amniocentesis-related loss rate in twin gestations.

We searched the PUBMED database using keywords "amniocentesis", "twin" and "twins" to identify articles evaluating genetic amniocentesis in twin gestations published from January 1970 to December 2010. Random effects models were used to pool procedure-related loss rates from included studies.

The definition of "loss" varied across the 17 studies identified (Table 1). The pooled procedure-related loss rate at < 24 weeks was 3.5% (95% confidence interval [CI] 2.6-4.7) (Figure 2). Pooled loss rates at < 28 weeks (Figure 4) and to term (Figure 5) could not be calculated due to unacceptable heterogeneity of available data. Seven studies included a control (no amniocentesis) group and reported a pooled odds ratio for total pregnancy loss among cases of 1.8 (95% CI 1.2-2.7) (Figure 3). Only 1 study reported procedure-related loss rates by chorionicity (7.7% among monochorionics vs 1.4% among controls; p 0.02).

Analysis of published data demonstrated a pooled amniocentesis-related loss rate of 3.5% in twin gestations < 24 weeks. Pooled loss rates within other post-amniocentesis intervals or other gestational age windows and the impact of chorionicity on procedure-related loss rates cannot be determined from published data.

The rate of twin pregnancies in the United States has stabilized at 32 per 1000 births in 2006. Aside from determining chorionicity, first-trimester screening and second-trimester ultrasound scanning should ascertain whether there are structural or chromosomal abnormalities. Compared with singleton births, genetic amniocentesis-related loss at <24 weeks of gestation for twin births is higher (0.9% vs 2.9%, respectively). Selective termination for an anomalous fetus is an option, although the pregnancy loss rate is 7% at experienced centers. For singleton and twin births for African American and white women, approximately 50% of preterm births are indicated; approximately one-third of these births are spontaneous, and 10% of the births occur after preterm premature rupture of membranes. From 1989-2000, the rate of preterm twin births increased, for African American and white women alike, although the perinatal mortality rate has actually decreased. As with singleton births, tocolytics should be used judiciously and only for a limited time (<48 hours) in twin births. Administration of antenatal corticosteroids is an evidence-based recommendation.