Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature Review.

Ring chromosome 15, a rare genetic disease, is very rarely prenatally diagnosed. We present a unique case of fetal ring chromosome 15 with ultrasound findings at 32 weeks of gestation including congenital diaphragmatic hernia, hypoplasia of the aorta with persistent left SVC, growth restriction, clubfeet and scoliosis. We also performed an analytical literature review of prenatal sonographic findings of the disease. This review suggests that ring chromosome 15 has a relatively specific sonographic pattern that could facilitate early detection. The specific sonographic features of ring chromosome 15 include fetal growth restriction, congenital diaphragmatic hernia, abnormal limb postures, cardiac defects, low-set ears and other less frequent, non-specific anomalies that can be identified in more than 50% of cases.

Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review.

Cri-du-Chat syndrome (CdCS) is a rare but serious genetic disorder. Most cases occur de novo, without specific risk factors as an indication of invasive prenatal diagnosis. Moreover, no specific ultrasound findings have been reported to facilitate early detection. This study presents a case of CdCS with fetal ultrasound findings of cerebellar hypoplasia and peri-membranous ventricular septal defect (VSD), which are consistent with previous reports, as well as coarctation of the aorta and hypercoiling cord, which have never been described in CdCS before. Additionally, we performed an analytical literature review to identify the sonographic pattern facilitating prenatal diagnosis. Based on the review of 47 reported cases, most CdCS fetuses (87.2%) had ultrasound characteristics: cerebellar hypoplasia (29.8%), followed by cardiac abnormalities (19.1%), hydrops fetalis/fluid collection (17.0%), ventriculomegaly (14.9%), choroid plexus cyst (12.8%) and nasal bone hypoplasia (12.8%). Increased nuchal translucency/nuchal fold thickness was also common. This is the first study providing a fetal sonographic pattern of CdCS that may facilitate early diagnosis.

Analyzing pregnancy outcomes in women of extremely advanced maternal age (> or = 45 years).

OBJECTIVE: To assesses pregnancy outcomes in women of extremely advanced maternal age (> or = 45 years). MATERIAL AND METHOD: Computerized delivery records, collected between January 2002 and December 2012 at Rajavithi Hospital, were retrospectively reviewed We compared the condition of women of maternal age > or = 45 years with singleton delivery and beyond 24 weeks of gestation (n = 82) in a 1:4 ratio with those women age 20 to 29 years (n = 328). RESULTS: Extremely advanced maternal age was significantly associated with a higher incidence of gestational diabetes mellitus (OR = 5.33; CI = 1.90-14.95), preeclampsia (OR = 4; CI = 1.99-8.06), preterm birth (OR = 1.74; 95% CI = 1.15-2.62), cesarean delivery (OR = 4.18; 95% CI = 2.52-6.93), postpartum hemorrhage (OR = 6.5; CI = 2.79-15.16), blood transfusion (3.7% vs. 0%; p = 0.008), placenta previa (OR = 16; 95% CI = 1.18-141.25), low birth weight (OR = 2.77; 95% CI = 1.23-6.25), very low birth weight (OR = 3.00; 95% CI = 1.07-8.4), low Apgar scores at 5 minutes (OR = 2.77; 95% CI 1.23-6.25), and perinatal death (OR = 6.00; 95% CI = 1.73-20.77). CONCLUSION: Women aged 45 or more experienced increased maternal and neonatal adverse outcomes when compared with younger women. Women in an extreme age group are advised that although they might face a significantly increased risk of complications, most of them could have successful outcomes. An extremely advanced age is not contradicted for pregnancy. Obstetricians must be especially careful when taking care of extremely advanced age pregnancy.

Takayasu disease in twin pregnancy: a case report.

Takayasu arteritis is a rare chronic inflammatory vascular disease involving the aorta and its major branches. During pregnancy, the disease can be life-threatening. This report describes a successful management of twin pregnancy complicated with Takayasu disease, rarely described elsewhere. A 33-year-old pregnant woman had been diagnosed with Takayasu disease since the age of 15 during a typical history and investigation. The patient underwent abdominal aortic aneurysmectomy with graft and revascularization of renal artery with saphenous vein graft before pregnancy. This pregnancy was a monochorion-diamnion twin. She was closely followed up and taken care of by a multidisciplinary approach at the high-risk antenatal clinic. A single fetal demise was detected at 20 weeks and the live fetus was diagnosed with intrauterine growth restriction at 25 weeks. Cesarean delivery was performed at 30 weeks due to severe IUGR, abnormal umbilical artery Doppler, and maternal superimposedpreeclampsia, giving birth to a healthy female baby weighing 960 gm. The case presented here implies that a successful outcome of twin pregnancy complicated with Takayasu disease is possible with multidisciplinary approach and extreme cautions.

The efficacy of rapid biophysical profile in predicting poor pregnancy outcomes in suspected intrauterine growth restriction fetuses: preliminary study.

OBJECTIVE: To determine the efficacy of the rapid biophysical profile (rBPP), which includes sound-provoked fetal movement detected by ultrasonography, and amniotic fluid index for antepartum fetal well-being assessment in suspected intrauterine growth restriction (IUGR) fetuses. MATERIAL AND METHOD: One hundred seven tests of rBPP were antenatally performed in 30 IUGR fetuses who attended the ANC unit at Maharaj Nakorn Chiang Mai Hospital between October 2009 and July 2010. Pregnancy outcomes were prospectively recorded for subsequent analysis. The accuracy of rBPP was based on poor outcomes including fetal distress, low Apgar score, admission to the neonatal intensive care unit, and perinatal death. RESULTS: In 107 tests, the incidences of negative, equivocal, and positive rBPP were 88.8%, 10.3%, and 0.9%, respectively. There was one adverse pregnancy outcome of intrapartum fetal distress. The rBPP had a sensitivity of 100.0%, a specificity of 89.7%, a positive predictive value of 25%, and a negative predictive value of 100.0%. CONCLUSION: The rBPP may probably be an effective predictor of poor pregnancy outcome in IUGR fetuses. With its high specificity and rapidity, the rBPP may be used as a back-up test to confirm fetal well-being in pregnancies complicated by IUGR at the antenatal care clinic.

Different median levels of serum triple markers in the second trimester of pregnancy in a Thai Ethnic Group.

AIM: The aim of the present study was to establish Thai-specific reference ranges of triple markers for fetal Down syndrome as a function of gestational age as well as weight correction models and to compare the false positive rates when using Thai-specific model relative to Caucasian-specific model. MATERIAL AND METHODS: A total of 993 normal Thai pregnant women were determined for mid-trimester serum levels of alpha-fetoprotein (AFP), free-beta human chorionic gonadotropin (hCG), and unconjugated estriol (uE3), using DefiaXpress system (Perkin Elmer, Waltham, MA, USA). RESULTS: The models of Thai-specific medians for AFP, b-hCG, and uE3, as well as the models for weight correction were derived and the normal reference ranges were constructed. The best fitted equation for AFP, b-hCG and uE3 are as follows: predicted median = 2.675 × 10((0.153 × GA in week)), r = 0.979; 10((-0.717 + 57.487/GA in week)) , r = 0.991; and 10((5.678-69.346/GA) (in) (week)), r = 0.99, respectively. The models were properly applied to another group of 302 Thai women, signifying that they were reliable models. The weight-adjusted gestation-specific medians derived from Caucasian models were significantly higher than those based on Thai models and the false positive rate could be reduced from 10 to 7.1% when Thai models were applied. CONCLUSION: Thai reference ranges of triple screen markers as a function of gestational age as well as weight correction models have been established. The Caucasian reference range, even after weight correction, gives a positive rate that is much higher than that it should be, strongly suggesting the need for ethnicity-specific medians.

Median levels of serum biomarkers of fetal Down syndrome detected during the first trimester among pregnant Thai women.

OBJECTIVE: To develop Thai-specific medians of serum pregnancy-associated plasma protein A (PAPP-A) and free ß-human chorionic gonadotropin (hCG) levels during the first trimester of pregnancy and to compare these values to a Caucasian-specific model for the detection of fetal Down syndrome. METHODS: Serum concentrations of PAPP-A and free ß-hCG were measured during the first trimester in a group of 2339 Thai women undergoing normal singleton pregnancies. RESULTS: Thai reference ranges of PAPP-A and free ß-hCG were established by gestational age (70-98 days). The equation of best fit for PAPP-A was: predicted median PAPP-A level=28.767 - 0.781×(gestational age in days)+0.006×(gestational age in days)(2); r=0.986. The equation of best fit for free ß-hCG was: predicted median free ß-hCG level=465.332×10((-0.024×gestational age in days)); r=0.881. Weight-corrected models were also derived for each biomarker. The Thai-specific reference ranges gave higher positive screening rates than the Caucasian-specific model, even after weight correction (5.1% versus 4.0%). The Thai-specific models were validated in an independent group of 302 pregnant women. CONCLUSION: Ethnic group-specific medians for PAPP-A and free ß-hCG should be incorporated during first-trimester screening for fetal Down syndrome.