Pui Wah Hui

Nuchal translucency in pregnancies conceived after assisted reproduction technology

Levels of maternal serum markers of fetal Down syndrome in pregnancies conceived after assisted reproduction are different from those of normal spontaneous pregnancies. The present study examined the effects of conventional in‐vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI) and embryo cryopreservation on nuchal translucency (NT) thickness.

Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong.

Objective To evaluate the effectiveness of whole-genome array comparative genomic hybridization (aCGH) in prenatal diagnosis in Hong Kong. Methods Array CGH was performed on 220 samples recruited prospectively as the first-tier test study. In addition 150 prenatal samples with abnormal fetal ultrasound findings found to have normal karyotypes were analyzed as a ‘further-test’ study using NimbleGen CGX-135K oligonucleotide arrays. Results Array CGH findings were concordant with conventional cytogenetic results with the exception of one case of triploidy. It was found in the first-tier test study that aCGH detected 20% (44/220) clinically significant copy number variants (CNV), of which 21 were common aneuploidies and 23 had other chromosomal imbalances. There were 3.2% (7/220) samples with CNVs detected by aCGH but not by conventional cytogenetics. In the ‘further-test’ study, the additional diagnostic yield of detecting chromosome imbalance was 6% (9/150). The overall detection for CNVs of unclear clinical significance was 2.7% (10/370) with 0.9% found to be de novo. Eleven loci of common CNVs were found in the local population. Conclusion Whole-genome aCGH offered a higher resolution diagnostic capacity than conventional karyotyping for prenatal diagnosis either as a first-tier test or as a ‘further-test’ for pregnancies with fetal ultrasound anomalies. We propose replacing conventional cytogenetics with aCGH for all pregnancies undergoing invasive diagnostic procedures after excluding common aneuploidies and triploidies by quantitative fluorescent PCR. Conventional cytogenetics can be reserved for visualization of clinically significant CNVs.

Maternal serum anti-Mullerian hormone level is not superior to chronological age in predicting Down syndrome pregnancies.

To compare the difference in maternal serum anti‐Mullerian hormone (AMH) level between Down syndrome pregnancies and unaffected pregnancies, and to evaluate its performance as a screening marker for Down syndrome pregnancy.

Nuchal translucency in pregnancies conceived after assisted reproduction technology.

Purpose of review Nuchal translucency is one of the important markers in the first trimester during antenatal screening for fetal Downs syndrome. With the observation of alterations in biochemical markers in pregnancies conceived after assisted reproduction, this review presents current information related to the thickness of nuchal translucency in these pregnancies. Recent findings Early small studies did not demonstrate any discrepancy in the thickness of nuchal translucency in fetuses from assisted reproduction and from spontaneous pregnancies, but there has been recent evidence to suggest an increased level of nuchal translucency in singletons from various modes of assisted-reproduction technology. Nuchal translucency in twins following assisted reproduction did not, however, show a similar increase. Although the effect of chorionicity was not specifically addressed, nuchal translucency thickness in twins born after assisted reproduction was reported to be comparable to that in spontaneous singletons. It is possible that singletons and twins after assisted reproduction exhibit different antenatal behavior and pregnancy courses. Summary Similar to other biochemical markers of fetal Downs syndrome, nuchal translucency is increased in singletons after assisted-reproduction technology. Further studies on twin pregnancies, in particular dichorionic twins, are necessary before conclusive evidence can be drawn for multiple pregnancies.

Obstetric outcomes in women with polycystic ovary syndrome and isolated polycystic ovaries undergoing in vitro fertilization: a retrospective cohort analysis

Abstract Objective: This retrospective cohort study evaluated the obstetric outcomes in women with polycystic ovary syndrome (PCOS) and isolated polycystic ovaries (PCO) undergoing in vitro fertilization (IVF) treatment. Methods: We studied 104 women with PCOS, 184 with PCO and 576 age-matched controls undergoing the first IVF treatment cycle between 2002 and 2009. Obstetric outcomes and complications including gestational diabetes (GDM), gestational hypertension (GHT), gestational proteinuric hypertension (PET), intrauterine growth restriction (IUGR), gestation at delivery, baby’s Apgar scores and admission to the neonatal intensive care unit (NICU) were reviewed. Results: Among the 864 patients undergoing IVF treatment, there were 253 live births in total (25 live births in the PCOS group, 54 in the PCO group and 174 in the control group). The prevalence of obstetric complications (GDM, GHT, PET and IUGR) and the obstetric outcomes (gestation at delivery, birth weight, Apgar scores and NICU admissions) were comparable among the three groups. Adjustments for age and multiple pregnancies were made using multiple logistic regression and we found no statistically significant difference among the three groups. Conclusion: Patients with PCO ± PCOS do not have more adverse obstetric outcomes when compared with non-PCO patients undergoing IVF treatment.

Application of transcervical hysterofetoscopy and cord blood collection at first trimester termination of pregnancy for fetal abnormalities.

To examine the applicability of hysterofetoscopy and cord blood collection at first trimester termination of pregnancy for fetal abnormalities.

P09.01: Two cases of internal iliac artery thrombosis following internal iliac balloon inflation in placenta accreta: Poster discussion hub abstracts

Results: 100 women were recruited. The variability of the Intra-observer MCI PI versus UA PI and the MCA PSV is shown in figure 1. The Interclass correlation coefficient (ICC) was determined and ”best” ICC was found in the MCA measurement (K=0.888) versus a ”good” ICC found in the UA measurement (K=0.755). A statistically significant decrease was found in the MCA PI measurements during the interval close to term (37-42 weeks gestation), and between the group of women assessed before 40+0 weeks (n=26) and the group of women assessed between 40+0 to 42+0 weeks gestation (n=76). There was no statistically significant difference in the MCA PSV and UA PI during the interval close to term. A similar difference was found. Conclusions: MCA PI measured at the interval close to term is highly reliable and superior to the UA PI measurement near term. The MCA PI significantly decreases in the weeks close to term.

EP11.19: Prenatal diagnosis and ultrasound features of harlequin ichthyosis: Electronic Poster Abstracts

Objectives: To evaluate the application of Crystal Vue in fetal gastrointestinal tract. Methods: We compared the Samsung WS80A Crystal Vue with two dimension and three dimension in 24 fetuses of different gestational weeks (GW) between January 2017 and January 2018, 1 case of 13 GW, 15 cases of 18∼25 GW, 5 cases of 28∼32 GW, 4 cases over 35 GW. Crystal Vue imaging were compared with 2D, 3D, MRI and pathologic examination in 4 fetuses with malformation, 2 cases with duodenal atresia (DA), 2 cases with congenital diaphragmatic hernia (CDH). Results: Crystal Vue could delineate the fetal intestinal wall and lumen in different GW, and is considered better than 2D, 3D and MRI T2WI. For the cases with CDH, the imaging of intestinal tract herniating into the thoracic cavity on Crystal Vue is similar to MRI; as for the cases with DA, the dilated esophagus, stomach and duodenum were better delineated on Crystal Vue than MRI. Conclusions: Samsung WS80A Crystal Vue is a non-invasive and convenient fast imaging technology, and is evaluable in evaluating the fetal gastrointestinal tract, not only in normal development, but also in diagnosis of gastrointestinal malformation.

A case of prenatal isolated talipes and 22q11.2 deletion syndrome—an important chromosomal disorder missed by noninvasive prenatal screening

Department of Obstetrics and Gynaecology, Queen Mary Hospital, The University of Hong Kong, Hong Kong, Special Administrative Region, China Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China Correspondence Ka Wang Cheung, Department of Obstetrics and Gynaecology, Queen Mary Hospital, The University of Hong Kong, 102 Pokfulam Road, Hong Kong SAR, China. Email: kelvincheung82@hotmail.com

Bridging the gap from prenatal karyotyping to whole-genome array comparative genomic hybridization in Hong Kong: survey on knowledge and acceptance of health-care providers and pregnant women

PurposeThe use of array comparative genomic hybridization (aCGH) has been increasingly widespread. The challenge of integration of this technology into prenatal diagnosis was the interpretation of results and communicating findings of unclear clinical significance. This study assesses the knowledge and acceptance of prenatal aCGH in Hong Kong obstetricians and pregnant women. The aim is to identify the needs and gaps before implementing the replacement of karyotyping with aCGH. Questionnaires with aCGH information in the form of pamphlets were sent by post to obstetrics and gynecology doctors.MethodFor the pregnant women group, a video presentation, pamphlets on aCGH and a self-administered questionnaire were provided at the antenatal clinic.ResultThe perception of aCGH between doctors and pregnant women was similar. Doctors not choosing aCGH were more concerned about the difficulty in counseling of variants of unknown significance and adult-onset disease in pregnant women, whereas pregnant women not choosing aCGH were more concerned about the increased waiting time leading to increased anxiety. Prenatal aCGH is perceived as a better test by both doctors and patients.ConclusionCounseling support, training, and better understanding and communication of findings of unclear clinical significance are necessary to improve doctor–patient experience.