Ron Maymon

Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis

Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT, USA Prenatal Diagnosis Unit, Institute of Gynecology, Obstetrics and Neonatology, Hospital Clinic, Maternitat Campus, University of Barcelona Medical School, Catalonia, Spain Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, PA, USA Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, New York, NY, USA Department of Obstetrics and Gynecology, University of Calgary, Calgary, AB, Canada Department of Obstetrics and Gynecology, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Department of Obstetrics and Gynecology, Stanford University School of Medicine, Stanford, CA, USA Department of Obstetrics and Gynecology, Washington University in St Louis, St Louis, MO, USA Laboratory for Infectious Diseases and Perinatal Screening, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands Prenatal Screening Unit, Clinical Biochemistry Department, Barking Havering & Redbridge University Hospitals, King George Hospital, Goodmayes, UK Genetics Program, North York General Hospital, Toronto, ON, Canada Department of Mathematics and Statistics, University of Plymouth, Plymouth, UK Prenatal Diagnosis Unit, Genetic Institute, Sourasky Medical Center, Tel Aviv, Israel *Correspondence to: Peter Benn. E-mail: benn@nso1.uchc.edu This Statement replaces the January 2011 Statement (Prenatal Diagnosis 2011;31:519–522) and the Rapid Response Statement (Prenatal Diagnosis 2012;32:1–2).

Follow up and outcome of isthmic pregnancy located in a previous caesarean section scar

Case report A 28 year old woman was referred at seven weeks of gestation because of vaginal bleeding. Three years before she had undergone caesarean section because of breech presentation of a baby who weighed 3.8 kg at birth. The puerperium was complicated by febrile morbidity. Other than slight vaginal bleeding, there were no clinical findings. Ultrasound examination showed a pregnancy located in the i s t h c a l region (Fig. 1). Since the gestational sac was displaced anteriorly, the possibility of ectopic implantation in the previous caesarean section scar was considered. After discussion with the couple, a mutual decision. was reached to avoid any intervention at that point. It was judged that the sac, located in the isthmical region, would eventually coalesce with the uterine cavity and continue as a normal pregnancy. Repeated ultrasound examinations at 13 and 14 weeks’ gestation (Fig. 2A, B) showed a tip of the sac bulging towards the uterine cavity. However, several weeks later, the sac remained outside the uterine cavity (Fig. 2C, D). The findings and the potential dangers were discussed again, but because of the increased risk of hysterectomy associated with termination at that stage, management was unchanged. Besides diet-controlled gestational diabetes, the course of the pregnancy was uneventful. Vaginal examinations disclosed a normal cervix displaced up and laterally by the sac that was bulging into the right fornix. Caesarean delivery was planned for the 36th week of gestation, and she was admitted to the hospital two weeks before this. At 35 weeks an urgent caesarean section was performed because of acute abdominal pain. A longitudinal incision was made into the coverings of the amniotic sac and a healthy male infant weighmg 3.6 kg was born. The membranes were covered with thin fibromuscular tissue and peritoneum. The uterus was displaced to the left by the pregnancy sac and both cavities communicated at the isthmical level. There was no chorion free in the peritoneal cavity, and the placenta and its vessels were visible through transparent thin uterine wall and peritoneum. The placenta was of normal size, attached firmly to the low anterior aspect of the sac, and was

Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011

Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT, USA Prenatal Diagnosis Unit, Institute of Gynecology, Obstetrics and Neonatology, Hospital Clinic, Maternitat Campus, University of Barcelona Medical School, Catalonia, Spain Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, PA, USA Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, New York, NY, USA Department of Obstetrics and Gynecology, University of Calgary, Calgary, AB, Canada Department of Obstetrics and Gynecology, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Department of Obstetrics and Gynecology, Washington University in St Louis, St Louis, MO, USA Laboratory for Infectious Diseases and Perinatal Screening, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands Prenatal Screening Unit, Clinical Biochemistry Department, Barking Havering and Redbridge University Hospital, King George Hospital, Goodmayes, UK Department of Mathematics and Statistics, University of Plymouth, Plymouth, UK Prenatal Diagnosis Unit, Genetic Institute, Sourasky Medical Center, Tel Aviv, Israel *Correspondence to: Peter Benn. E-mail: benn@nso1.uchc.edu

Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis

President President-Elect Past President Secretary Treasurer Lucas Otano MD, PhD (Argentina) Ignatia B. Van den Veyver MD (USA) Jan M.M. van Lith MD, PhD (Netherlands) Louise Wilkins-Haug MD (USA) Antoni Borrell MD, PhD (Spain) Directors Peter Benn PhD, DSc (USA) Lyn Chitty PhD (UK) Rossa Chiu (Hong Kong) Roland Devlieger MD, PhD (Belgium) Sylvie Langlois MD, CCMG (Canada) Anthony O. Odibo MD, MSCE (USA) R. Doug Wilson MD, Msc, FRCSC (Canada) Yuval Yaron MD (Israel) Diana W. Bianchi MD, ex officio (USA) Position Statement from the Chromosome Abnormality Screening Committee on Behalf of the Board of the International Society for Prenatal Diagnosis

Cesarean scar pregnancy and early placenta accreta share common histology

To determine, by evaluation of histological slides, images and descriptions of early (second‐trimester) placenta accreta (EPA) and placental implantation in cases of Cesarean scar pregnancy (CSP), whether these are pathologically indistinguishable and whether they both represent different stages in the disease continuum leading to morbidly adherent placenta in the third trimester.

Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011

Definitive prenatal diagnosis of Down syndrome and certain other fetal aneuploidies through chromosome analysis of amniocytes or chorionic villus samples (CVS) is an accepted part of prenatal care. But these procedures carry some degree of risk for miscarriage or other pregnancy complications (Tabor and Alfirevic, 2010). Therefore, in most developed countries it is now a routine practice to provide a woman’s personal risk for aneuploidy (screening) and to offer definitive diagnosis through amniocentesis or CVS if the risk exceeds a fixed cut-off. However, in the United States it has been recommended that amniocentesis and CVS should be available to all women whether or not they have screening (American College of Obstetricians and Gynecologists, 2007a), although it is recognized that screening can be helpful to women before they decide whether to accept or reject amniocentesis or CVS (American College of Obstetricians and Gynecologists, 2007b). Fetal aneuploidy risk can be evaluated on the basis of a combination of maternal age, prior family history, maternal serum biochemical tests and fetal ultrasound markers (Cuckle and Benn, 2010). Risk evaluation provides an opportunity to re-assure most women that their fetus is unlikely to be affected by a chromosomal disorder and also to reduce the number of unnecessary invasive procedures performed. Those women who are identified as being at high risk can receive genetic counseling, additional testing and appropriate follow-up obstetric care. Because Down syndrome is the most common significant aneuploidy, prenatal screening has emphasized the detection of this disorder. However, it is recognized that many of the screening tests have a variable potential to detect other aneuploidies, some other genetic disorders, specific fetal anatomic abnormalities and pregnancy complications such as preeclampsia.

Oophoropexy to Prevent Adnexal Torsion: How, When, and for Whom?

STUDY OBJECTIVE To assess the efficacy of oophoropexy in obviating recurrent torsion and its possible long-term effects. DESIGN Case series and review of the literature (Canadian Task Force classification III). SETTING University hospital. PATIENTS Women who underwent oophoropexy for recurrent torsion of normal adnexa between 2003 and 2008. MEASUREMENTS AND MAIN RESULTS Retrieved information included the indication for oophoropexy, surgical methods, recurrence, and follow-up. Seven women underwent oophoropexy during the study period because of recurrent torsion of normal adnexa. One additional patient had experienced 3 torsion events of cystic adnexa. Surgical methods included suturing of the ovary to the pelvic sidewall or to the round ligament and plication of the utero-ovarian ligaments. Recurrence occurred in 1 of 6 patients for whom follow-up was available. All 6 patients reported spontaneous menstruation, and 2 conceived spontaneously and gave birth. Ultrasound at long-term follow-up (9-58 months) demonstrated normal ovaries. CONCLUSION Oophoropexy seems to be efficacious in preventing recurrent torsion. It is our impression that plication of the utero-ovarian ligaments has advantages over other approaches insofar as surgical feasibility and anatomical conservation.

Comparison of nuchal translucency measurement and second-trimester triple serum screening in twin versus singleton pregnancies

Maternal serum screening for Down syndrome (DS) in twin pregnancies poses difficulties due to a lack of precise biochemical information about each co‐twin. The current study attempts, for the first time, to compare two screening methods: nuchal translucency (NT) measurement and serum screening for DS, in twin pregnancies. 60 women with twin pregnancies (study group) underwent both first‐trimester NT scanning and mid‐trimester triple‐marker serum screening, and were followed throughout their gestation. Nuchal translucency measurements were compared with a matched control of 120 singleton pregnancies with a similar (±2 years) maternal age and fetal crown–rump length (CRL) (±3 mm). In both analyses, a risk of 1:380, or higher, of having a DS newborn was considered screen positive. Both mean maternal age (31±3 years) and CRL (62±11 mm) were similar in the study and control groups. The median NT measurement expressed as multiples of the median (MOM) for CRL was similar in the study and control groups (0.85 and 0.88, respectively). Based on NT measurements, 5 per cent of the pregnancies in the study group and 2.5 per cent in the control group were defined as screen positive (p =N · S). Mid‐gestation serum screening was associated with 15 per cent and 6 per cent screen‐positive rate in study and control groups, respectively (p<0.05). There was a ratio of 1:3 screen‐positive rate between first and second‐trimester screening tests within the study group. This high false‐positive rate results led to 18.3 per cent amniocentesis rate in the study group compared with 7.5 per cent of the control group (p<0.03). Only one co‐twin which was picked up by the NT screen was further diagnosed as trisomy 21, and one co‐twin with cardiac and neural tube defect was missed by the two screening tests and was later picked up in an anomaly scan. Although the current series is too small to provoke any changes in screening practice, when twin pregnancies are diagnosed, it seems very reasonable to offer them NT measurement. A larger group may be needed to clarify which approach is the most beneficial screening policy for this highly selected group of pregnant women. Copyright

Torsion of normal adnexa in postmenarcheal women: can ultrasound indicate an ischemic process?

Torsion of normal adnexa is a rare event involving steadily increasing congestion and ischemia of the ovary. We investigated whether this process can be characterized by sonographic features.

Clinical, sonographic, and epidemiologic features of second‐ and early third‐trimester spontaneous antepartum uterine rupture: a cohort study

To present prenatal findings and maternal and neonatal outcomes following second‐ and early third‐trimester spontaneous antepartum uterine rupture events in our institute.