Cystic hygroma detected in the first trimester scan in Hong Kong.

Objective: To investigate the outcome of fetuses with cystic hygroma (CH) diagnosed at the first trimester from a general population in Hong Kong.

Method: This was a prospective study of 30 fetal cystic hygroma detected at 11 to 13 + 6 weeks' gestation in 8835 sequential unselected pregnancies. Fetal cystic hygroma was categorized as isolated cystic hygroma (ICH) or associated cystic hygroma (ACH) according to the presence of associated multiple congenital structural abnormalities (MCA).

Assessing discrepant findings between QF-PCR on uncultured prenatal samples and karyotyping on long-term culture.

Objective: To assess the prevalence of discrepant results found between quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on uncultured prenatal samples and karyotyping on long-term culture.

Method: Results of QF-PCR from 1932 amniotic fluid (AF) and 1132 chorionic villus (CV) samples collected from September 1999 to February 2008 were analyzed. Nature of discrepancies was categorized for normal or abnormal results from uncultured and cultured samples.

First-trimester fetal limb biometry in Chinese population.

Objectives: To establish reference ranges for fetal limb biometry obtained by transabdominal ultrasound examination at 12-14 weeks of gestation in Chinese women.

Methods: A total of 1489 normal singleton fetuses between 12(+0) and 14(+6) weeks of gestation were examined transabdominally by two experienced observers. The gestation was ascertained by measurement of fetal crown-rump length (CRL) or biparietal diameter (BPD) and head circumference (HC).

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.

Ultrasound screening of fetal structural abnormalities at 12 to 14 weeks in Hong Kong.

Objective: Ultrasound screening for fetal abnormalities is conventionally performed at 18 to 20 weeks of gestation. Recent data suggested that many fetal structural abnormalities could be detected by ultrasound examination at 12 to 14 weeks of pregnancy. In this study, we investigated the effectiveness of early ultrasound examination in the detection of fetal abnormalities in women aged 35 years or older.

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.

Comparison and integration of first trimester fetal nuchal translucency and second trimester maternal serum screening for fetal Down syndrome.

Background: It is uncertain whether first trimester nuchal translucency (NT) is more effective than the well-established second trimester serum screening for fetal Down syndrome or whether their combination works best. We report data from a large multicentre non-interventional trial in which all subjects underwent both first and second trimester screening.

Methods: All women who attended the obstetric clinic before 15 weeks' gestation were recruited.

The effect of ethnic origin on nuchal translucency at 10-14 weeks of gestation.

Introduction: Fetal nuchal translucency (NT) increases with gestation and is affected by fetal posture and fetal gender. A recent report suggested that there might also be ethnic differences. We investigated the effect of ethnic origin on NT in an Asian population.

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.

The effect of fast reporting by amnio-PCR on anxiety levels in women with positive biochemical screening for Down syndrome--a randomized controlled trial.

Objective: To study the effect of fast reporting by polymerase chain reaction on amniotic fluid cells (amnio-PCR) on anxiety levels in women with positive biochemical screening for Down syndrome.

Method: Between May 2000 and April 2001, 60 screen-positive women were randomized before amniocentesis into either having (group A) or not having (group B) fast-reporting by amnio-PCR. Anxiety levels were measured by the Spielberger State-Trait Anxiety Inventory just prior to amniocentesis, three days (when PCR results were known to group A) and three weeks (when standard karyotype results were known to both groups) afterwards.

Thermocoagulation of fetal sacrococcygeal teratoma.

Fetal sacrococcygeal teratoma can lead to a high output cardiac failure resulting in hydrops fetalis. One of the prenatal therapeutic options is to occlude the feeding vessels by radiofrequency ablation. We present a case of fetal sacrococcygeal teratoma diagnosed at 13 weeks of gestation.

Middle cerebral artery Doppler study in fetuses with homozygous alpha-thalassaemia-1 at 12-13 weeks of gestation.

Objective: Fetuses affected by homozygous alpha-thalassaemia-1 are anaemic from the first trimester of pregnancy. We investigated middle cerebral artery Doppler velocimetry in these affected fetuses at 12-13 weeks of gestation to assess its use in predicting fetal anaemia.

Methods: Women referred for the prenatal diagnosis of homozygous alpha-thalassaemia-1 before 14 weeks of gestation were recruited.