Prenatal ultrasound predictors of postnatal major cerebral abnormalities in fetuses with apparently isolated mild ventriculomegaly.

Objective: We aim to examine the incidence of major cerebral abnormalities on postnatal imaging in cases with isolated mild ventriculomegaly on fetal sonography and to evaluate the relationship between the presence or absence of such defects and prenatal ultrasound factors.

Methods: We searched our databases to identify all cases with mild ventriculomegaly (10-15 mm) and no other major structural abnormalities on prenatal ultrasound, with normal karyotype and no evidence of maternal or fetal infection. For each case, we retrieved data on prenatal ultrasound follow-up, fetal magnetic resonance imaging (MRI), neonatal ultrasound and/or brain MRI, and pregnancy outcome.

Unusual prenatal presentation of Rubinstein-Taybi syndrome: a case report.

Rubinstein-Taybi syndrome (RTS) is a rare multiple congenital anomalies-intellectual disability syndrome. The diagnosis is made after birth and based on the detection of signs such as growth and developmental delay, minor facial anomalies, and broad thumbs and halluces. It is rare to suspect RTS during the prenatal period.

Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior.

Background: An increasing number of foetuses are recognized as having double Y because of the widespread use of prenatal screening using chorionic villus sampling and amniocentesis. 47, XYY karyotype occurs in about one out of 1,000 newborn males, but it is not often detected unless it is diagnosed during prenatal testing. Despite the fact that unbiased follow-up studies demonstrate largely normal post-natal development of young men with 47, XYY, there is a scarcity of controlled studies about the neurological, cognitive and behavioural phenotype which remains the main reason for anxiety and anticipatory negative attitudes of parents.

Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome.

Objective: This study aims to investigate the clinical relevance of confined placental mosaicism (CPM) detected at chorionic villous sampling (CVS) and to identify risk factors for this condition.

Method: Women diagnosed with CPM between January 2005 and December 2009 were identified. They were matched to women with unremarkable CVS in a 1 : 2 ratio by study period and contacted by phone for interview.

Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review.

We present the case of a monozygotic twin pregnancy discordant for phenotype and karyotype. A chorionic villus sample was performed at the 11th week of gestation in a primigravida because of cystic hygroma detected by ultrasound in one twin of a monochorionic, biamniotic pregnancy. Rapid testing by means of quantitative fluorescence polymerase chain reaction and conventional karyotyping, obtained by both short- and long-term culture, revealed a homogeneous monosomy X (45,X).

Diffusion-weighted magnetic resonance imaging of acute hypoxic-ischemic cerebral lesions in the survivor of a monochorionic twin pregnancy: case report.

Monochorionic twin pregnancies complicated by the death of one twin are associated with substantial morbidity in the survivor, with a high risk of developing hypoxic-ischemic brain damage. In this report, we demonstrate how prenatal diffusion-weighted magnetic resonance imaging detected focal ischemic lesions in the survivor of a monochorionic twin pregnancy within 1-2 days of cotwin death. A very early diagnosis of cerebral ischemic lesions might influence the management of the pregnancy.

Haematological indices at fetal blood sampling in monochorionic pregnancies complicated by feto-fetal transfusion syndrome.

36 MCDA twin pregnancies with FFTS investigated by fetal blood sampling (FBS) were studied over a 10-year period (1988-1997). The haematological data obtained at FBS were compared between the donor and recipient fetuses. It was shown that the donor fetus had a significantly lower haematocrit (35.

Prenatal diagnosis of genetic syndromes may be facilitated by serendipitous findings at fetal blood sampling.

Two women without a specific risk had fetuses with multiple malformations diagnosed by ultrasound; extensive biochemical investigations on fetal blood revealed clues which would have allowed the correct diagnosis of a genetic condition: Pallister-Killian syndrome in one with increased fetal LDH, and Smith-Lemli-Opitz type II syndrome in the other with low fetal cholesterolaemia. When compared with chorionic villus sampling and amniocentesis, rapid karyotyping in women with multiple fetal malformations by fetal blood sampling allows the collection of additional data which may lead to the diagnosis of specific genetic syndromes.

Trisomy 21 is associated with hypercholesterolemia during intrauterine life.

Objective: Because individuals with Down syndrome appear to be protected from the development of atherosclerosis, we aimed to assess whether blood lipid and lipoprotein concentrations are different from controls in fetuses with trisomy 21.

Study Design: Eighteen fetuses with trisomy 21 and seven with trisomy 18 undergoing blood sampling at 18 to 36 weeks' gestation were matched by gestational age and size with an equal number of controls. Cholesterol and triglycerides were assayed in all fetuses and compared with the reference range constructed from 157 normal fetuses.

Prenatal diagnosis of congenital human cytomegalovirus infection.

Fifteen fetuses at risk of congenital human cytomegalovirus (HCMV) infection underwent prenatal diagnosis at 16-30 weeks' gestation by a combination of amniocentesis and fetal blood sampling. HCMV was isolated from the amniotic fluid in six patients, but HCMV-specific IgM was detected in only three of them. Two of the nine neonates, who were delivered following a negative prenatal diagnosis, had congenital HCMV infection diagnosed by virus isolation in the urine.

Measurements of fetal limb bones in early pregnancy.

The fetal humerus, radius/ulna, femur, tibia/fibula and foot were measured in 296 pregnant women at 64-108 days' menstrual age, using vaginal sonography. All limb measurements correlated significantly with gestational age and biparietal diameter independently. Ratios of limb segment lengths did not change with gestation.

Prenatal confirmation of trisomy 12 mosaicism by fetal skin biopsy.

Trisomy 12 mosaicism diagnosed at 16 weeks' amniocentesis in a 42-year-old woman was not confirmed at 18 weeks' gestational age in amniotic fluid or fetal blood. Fetal skin biopsy performed at the same time did, however, allow the detection of trisomy 12 in 1 of 14 fibroblasts analysed. Fetal skin biopsy can be included within the diagnostic procedures to be performed when a level III mosaicism is found in the amniotic fluid.