Spectrum of fetal limb anomalies.

Purpose: Antenatal detection of limb anomalies is not uncommon, and pregnancies are usually terminated in view of the expected physical handicap. The aim of this retrospective observational study is to delineate the spectrum of fetal limb anomalies and provide evidence in support of complete postnatal evaluation in establishing recurrence risk.

Methods: We present 54 cases of limb malformations detected antenatally and discuss the spectrum of abnormalities, the utility of fetal autopsy, and genetic testing to establish recurrence risk in subsequent pregnancies.

Ultrasound detection of placental insufficiency in women with elevated second trimester serum alpha-fetoprotein or human chorionic gonadotropin.

Objective: We evaluated the role of placental morphology ultrasound and uterine artery Doppler in predicting adverse perinatal outcomes in women with unexplained elevated serum alpha-fetoprotein (AFP) or human chorionic gonadotropin (hCG) levels in the second trimester of pregnancy.

Methods: Women with a serum AFP > 2.0 MoM (n = 83) or serum hCG > 2.

Usefulness of a placental profile in high-risk pregnancies.

Objective: Test the hypothesis that a placental function profile can reassure most high-risk women with normal test results yet accurately can identify a subset of women who are destined for major complications that will be attributable to placental disease.

Study Design: This was a prospective study of 212 high-risk pregnancies that used the placental profile (16- to 18-week maternal serum screening, 18- to 23-week uterine artery Doppler imaging, and placental morphologic condition). Odds ratios (95% CI) were derived for intrauterine fetal death (IUFD), preterm delivery at < 34 weeks of gestation, preeclampsia/hemolysis, elevated liver enzymes, and low platelet count syndrome (HELLP) syndrome, small for gestational age delivery, and early-onset intrauterine growth restriction (IUGR); all normal test results (n =125) were compared with > or = 1 abnormal test results.

Second-trimester prediction of severe placental complications in women with combined elevations in alpha-fetoprotein and human chorionic gonadotrophin.

Objective: The purpose of this study was to determine the ability of uterine artery Doppler and placental ultrasound to identify adverse clinical outcomes attributable to severe placental dysfunction in women with second-trimester unexplained elevated maternal serum screening of alpha-fetoprotein and human chorionic gonadotropin.

Study Design: Fifty singleton pregnancies with elevated alpha-fetoprotein (3.5 multiples of median [range 2.

Fetal response to maternal exercise in pregnancies with uteroplacental insufficiency.

Objective: The purpose of this study was to determine the fetal response to submaximal maternal exercise at 22 to 26 weeks in pregnancies with abnormal uterine artery Doppler.

Study Design: This was a prospective comparison of singleton pregnancies with uteroplacental vascular insufficiency (UPVI) (mean uterine pulsatility index [PI] values >1.45 [n = 12]) and those with normal uterine artery Doppler (n = 23).

Developmental biology of the placenta and the origins of placental insufficiency.

Defects in all the trophoblast-differentiating pathways--endovascular, interstitial and chorionic villous--play a role in the pathogenesis of early-onset intra-uterine growth restriction (IUGR). There are two types of extravillous trophoblast: endovascular trophoblast, that forms the definitive placenta by occlusion of the spiral arteriole at the implantation site, and interstitial extravillous trophoblast, responsible for the anatomical erosion of the distal spiral arteriole and the secretion of angiogenic and vasodilator signals to improve uterine blood flow. Defective endovascular erosion may render the basal plate inadequate to meet the demands of the fetus.

Absence of sperm meiotic segregation error of chromosomes 1, 9, 12, 13, 16, 18, 21, X and Y in a case of 100% necrozoospermia.

Varying degrees of necrozoospermia are common findings in cases of male sub-fertility; however, it is rare to find persistent and 100 % necrozoospermia. A case of persistent 100 % necrozoospermia was presented in this paper, where aneuploidy analysis was carried out on sperm. No known associations like thyrotoxicosis, genital infection, spinal injury and diabetes were found.

Low level of mosaicism in atypical Prader Willi syndrome: detection using fluorescent in situ hybridization.

Prader Willi syndrome (PWS) most commonly is due to paternal micro-deletion of 15q11-q13. Although PWS is not a rare condition, mosaic micro-deletion cases are reported rarely. FISH using PWS micro-deletion probe is the most useful method to detect deletion including mosaicism.