Laura S Pijpers

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Among 3499 cytogenetically investigated semi-direct chorionic villus samples, 219 (6.3 per cent) abnormal karyotypes were encountered. The karyotypes were considered certainly abnormal (generalized abnormal with high probability) in 109 cases (3.1 per cent), and in 110 cases (3.1 per cent) uncertainly abnormal (potentially confined to the placenta),(More)
In 3,000 chorionic villi studies (CVS) 33 cases of mosaicism and 7 false-positive cell lines in all cells were seen. The mosaic cell lines were caused by aneuploidy of autosomes (13x), sex chromosomes (9x), and structural anomalies (11x). Mosaics of fetal origin were only 4 cases of trisomy 21 and one 47,XXY mosaic. In 7 cases abnormal karyotype of(More)
We report in detail the cytogenetic results of 1838 consecutive chorionic villus samples with the availability of both short-term culture (STC-villi) and long-term culture (LTC-villi) preparations in 1561 cases (84.9%). A high degree of laboratory success (99.5%) and diagnostic accuracy (99.8%) was observed; in four cases of low mosaicism, all four(More)
500 women with multiple pregnancies underwent amniocentesis or chorionic villus (CV) sampling at our department between January 1988 and July 1997. The aim of this retrospective study was to evaluate the laboratory aspects and the consequences of discordant results in these pregnancies in relation to the method of sampling. Uncertain results in one or both(More)
Use of antiepileptic drugs (AEDs) during pregnancy is associated with an increased risk of congenital malformations. Spina bifida aperta has been linked specifically to valproic acid (VPA) (estimated risk, 1 to 2%). The actual risk, the exclusive association of VPA with spina bifida and not anencephaly, and the precise causative relation remain matters of(More)
Ovarian leiomyoma is a rarity. Usually it is not associated with any clinical symptoms. Macro- and microscopically it is indistinguishable from the uterine leiomyoma. Treatment consists of simple removal of the tumor. The possible histogenesis of this tumor is reviewed. It is concluded that the ovarian leiomyoma probably originates from the smooth muscle(More)
Eighty-three patients with twin pregnancies were seen at the University Hospital of Rotterdam between 1 January 1980 and 31 August 1985 for prenatal genetic studies. No abnormal karyotypes were found. Amniotic fluid was successfully obtained from both amniotic sacs in 77 patients. In two pregnancies elevated levels of alpha-fetoprotein (AFP) were found in(More)
Measurement of the head-to-abdomen (H/A) ratio for differentiating between symmetrical and asymmetrical IUGR may be difficult in the presence of marked oligohydramnios. A total of 76 cases of IUGR with various degrees of oligohydramnios was studied. Sixteen (59%) out of 27 structural defects represented bilateral renal agenesis, 11 of which were diagnosed(More)
Maternal age related and procedure-related fetal abortion rates were studied in 384 women aged 36 and over scheduled for transabdominal chorionic villus sampling (TA-CVS) at 12-14 weeks of gestation. The pre-TA-CVS abortion rate within 30 days of intake (at 6-10 weeks of gestation) rose from 1.9% at age 35-36 years to 10.9% at 40 years and older. Women(More)
The prenatal diagnosis of The Turner Syndrome is described at a menstrual age of 12 weeks. Detection of cystic hygroma was followed by vaginal chorionic villous sampling (CVS) which revealed a 45,X karyotype. Early documentation of fetal karyotype in the presence of a cystic hygroma is essential for accurate diagnosis and genetic counselling.