Hemoglobin A1c in early pregnancy to identify preexisting diabetes mellitus and women at risk of hyperglycemic pregnancy complications.

Background: Unrecognized diabetes mellitus during pregnancy could pose serious maternal and neonatal complications. A hemoglobin A1c level of ≥6.5% was used to diagnose both diabetes mellitus in nonpregnant individuals and diabetes in pregnancy.

Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities.

Prenatal testing was performed in a 39-year-old Chinese pregnant woman referred for increased nuchal translucency measuring 5.7 mm. Non-invasive prenatal testing and SNP array study on amniotic fluid samples were normal.

Impact of COVID-19 pandemic on preterm delivery.

Objective: Controversies exist on whether the pandemic lockdown has resulted in a lower rate of preterm deliveries. A higher stillbirth rate was also reported. This retrospective observational study aimed to examine the rate of preterm delivery and stillbirth in a tertiary hospital in Hong Kong during COVID-19 pandemic.

20 years review of antenatal diagnosis of haemoglobin Bart's disease and treatment with intrauterine transfusion.

Objective: To review prenatal diagnosis and outcome of alpha thalassaemia major through universal antenatal screening.

Method: This was a retrospective study on ultrasound features, antenatal diagnosis, in-utero intervention and long term outcome of pregnancies at risk of Haemoglobin Bart's hydrops foetalis syndrome attending prenatal diagnosis from 2000 to 2019 at Tsan Yuk Hospital in Hong Kong.

Results: Among 390 foetuses from 373 at-risk pregnancies, 122 (31%) prenatal invasive procedures were performed and 65 affected foetuses were diagnosed antenatally.

Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome-An unexpected diagnosis of androgenetic chimera and its clinical implications.

Beckwith Wiedemann Syndrome (BWS, OMIM 130650) is an imprinting disorder that may present antenatally with a constellation of sonographic features namely polyhydramnios, macrosomia, macroglossia, omphalocele, placental mesenchymal dysplasia, cardiomegaly, nephromegaly, fetal hydrops, and other rare anomalies. Paternal uniparental disomy in chromosome 11p15 imprinting region accounts for 20% of all BWS, and 8% among those were due to genome-wide paternal uniparental disomy (GWpUPD). GWpUPD is a rare condition and usually results in prenatal lethality.

Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong.

Background: Chromosomal microarray (CMA) has been shown to be cost-effective over karyotyping in invasive prenatal diagnosis for pregnancies with fetal ultrasound anomalies. Yet, information regarding preceding and subsequent tests must be considered as a whole before the true cost-effectiveness can emerge. Currently in Hong Kong, karyotyping is offered free as the standard prenatal test while genome-wide array comparative genome hybridization (aCGH), a form of CMA, is self-financed.

The Accuracy of Self-Screening of Group B Streptococcus in Pregnant Women-A Randomized Crossover Study.

Objective: Universal screening of vaginal and rectal group B streptococcus (GBS) carriage in pregnant women is now recommended in many countries to identify at-risk pregnancies and reduce the risk of early-onset GBS disease in newborn infants. This study compared self-screening by pregnant women with screening by health care workers in a largely Chinese population.

Methods: A randomized crossover study was conducted in Hong Kong.

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.

Purpose: The 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.

Pregnancy-associated plasma protein A (PAPP-A) to predict adverse fetal outcomes in Chinese: What is the optimal cutoff value?

A low level of PAPP-A predicts adverse fetal outcomes. As Chinese pregnant women have a higher level of PAPP-A, the predictive performance of PAPP-A and its optimal cutoff value might be different. This study aims to establish a PAPP-A cutoff value in the Chinese population that identifies adverse fetal outcomes.

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

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.

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

Objective: 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.

Method: A total of 145 pregnancies affected by foetal Down syndrome and 290 unaffected controls matched with maternal age and gestational age were selected, and their archived first or second trimester serum retrieved for AMH assay.

Results: There was no significant difference in maternal serum AMH level between pregnancies affected and unaffected by foetal Down syndrome.

Fetus in fetu--from prenatal ultrasound and MRI diagnosis to postnatal confirmation.

We report a case of fetus in fetu presented as a complex intra-abdominal heterogeneous cystic lesion during ultrasound examination of the fetus at 25 weeks of gestation. Progressive growth of this mass was noted in the prenatal period. Fetal magnetic resonance imaging provided additional information to aid in the prenatal diagnosis.

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 Down's 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.

Maternal serum pregnancy-associated plasma protein-A and free beta-human chorionic gonadotrophin in pregnancies conceived with fresh and frozen-thawed embryos from in vitro fertilization and intracytoplasmic sperm injection.

Objective: Maternal serum pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotrophin (beta-hCG) are useful markers in the screening of Down syndrome in the first trimester. We investigated the effect of intracytoplasmic sperm injection (ICSI), freezing and thawing of embryos on the levels of these two analytes in assisted reproduction pregnancies.

Methods: We recruited 149 women who conceived after assisted reproduction with fresh embryos (92 from conventional IVF and 57 from ICSI), 85 women who conceived with frozen-thawed embryos (54 from conventional IVF and 31 from ICSI) and 401 women with spontaneous conceptions as controls.

Pilot study on the midsecond trimester examination of fetal nasal bone in the Chinese population.

Objectives: Hypoplasia of the nasal bone of fetuses affected by trisomy 21 and other aneuploidies could be detected by prenatal ultrasound examination and was an important new marker in the detection of Down syndrome in the second trimester. Racial differences in fetal nasal bone length have been reported. However, there was no reference range for the fetal nasal bone length (NBL) in the Chinese population.

Sonographic features of ileal duplication cyst at 12 weeks.

Enteric duplication cyst is a congenital abnormality that is believed to arise from abnormal recanalization of the bowel during embryogenesis. Previous reports suggest that the condition may be suspected prenatally by sonographic demonstration of an intra-abdominal cystic mass in the second and third trimesters. We present the sonographic features of a fetus with ileal duplication cyst at 12 weeks of gestation, which show that the condition may present in the first trimester of pregnancy.

Attitude of at-risk subjects towards preimplantation genetic diagnosis of alpha- and beta-thalassaemias in Hong Kong.

Objectives: The aim of the study was to assess whether preimplantation genetic diagnosis (PGD) was an acceptable alternative to prenatal diagnosis in couples at risk of giving birth to a child with alpha- or beta-thalassaemia in an Asian population.

Methods: An information leaflet was distributed to the women at risk. They were asked to complete a questionnaire after having an interview with a designated investigator.