Objective To investigate the value of ultrasound in diagnosis of fetal simple unilateral multicystic dysplastic kidney (MCDK) disease.Methods Pregnant women who underwent prenatal ultrasound screening and follow-up were analyzed retrospectively,and 29 fetues with MCDK were found.After exclusion of pregnancy syndrome,other structural abnormalities and chromosomal abnormalities,15 fetues willing to continue pregnancy and accepting the follow-up tracking observation were observed to postpartum.Ipsilateral renal ultrasonographic characteristics,contralateral renal morphology and size,growth and development of children and the renal function were analyzed.Results The minimum follow-up time of the 15 fetus was pregnancy to 7 months after birth,the maximum follow-up time was pregnancy to 5 years of age in children.Ultrasound showed that ipsilateral kidney volume became large in fetal period,reduced gradually in late pregnancy,and atrophy in 5 6 months after birth,even could not displayed with untrasound.The shape,size,and sonographic characteristics of the healthy kidney were similar to the normal gestational age kidney.Prenatal fetal growth indicators and amniotic fluid volume were normal.After birth,except for 1 child with overweight,other children's growth and development indicators were almost normal.Conclusion Fetus with simple unilateral MCDK has a good prognosis.Ultrasound has important value in the examination and follow-up.It can provide reliable basis for prenatal diagnosis and consultation.

Objective To investigate the application of "Guidelines for performing fetal cardiac scan", issued by the International Society of Ultrasound in Obstetries and Gynecology in 2006, in prenatal screening of fetal congenital heart disease (CHD). Method Totally, 5000 singleton pregnancies presented at the Maternal-Fetal Medical Center of the Affiliated Drum Tower Hospital of Nanjing University Medical School from September 2006 to July 2007, for prenatal screening were included in this study, with the median maternal age of 28 ( range, 18～48 ) and the median gestation of 27 ( range, 18～40 ) weeks. Ultrasound screenings were performed on each fetal heart according to "Guidelines for performing fetal cardiac scan" via the four-chamber and outflow tracts & three-vessel views and fetal echocardiographies were further conducted for suspected cases. Once congenital heart disease was confirmed, amniocentesis or cordocentesis was suggested for fetal karyotyping for ongoing pregnancies and autopsy was performed when the pregnancy was terminated after formal consent. Bom babies were followed up at 2～6 months of age using echocardiography. Result The four-chamber views were successfully obtained in 97.64% (4882/5000) of all the pregnancies , among which the left ventricular and right ventricular outflow tracts and three-vessel views were obtained in 87.69% ( 4281/4882 ), 82.51% ( 4028/4882 ) and 96.29% ( 4701/4882 ), respectively. Higher successful rate was found in the second trimester than the third trimester in obtaining the standard views (P<0.05). Finally, 73 (1.50%) among the 4882 cases were diagnosed as CHD. Fifty of them were diagnosed prenatally (24 cases in the second trimester and 26 cases in the third trimester) and 23 were missed and 1 misdiagnosed by prenatal ultrasound. Eighteen cases were found with extracardiac malformations. Autopsy was performed in 19 CHD which diagnosed prenatally, and all autopsy reports were consistent with ultrasound foundings. Twelve babies received postnatal echocardiography among which 11 were unanimous, and 1 baby diagnosed as tricuspid insufficiency prenatally was confirmed normal after birth. Abnormal karyotype was found in 7 out of the 23 who had karyotyping performed. Altogether, 28 cases were diagnosed by four chamber view only and 50 cases by combining other views, giving the sensitivity, specificity, false negative rate and false positive rate of 69% (50/73), 99.98% (4808/4809), 0.48% (23/4831) and 2% ( 1/51 ) ,respectively. Conclusion The "Guidelines for performing fetal cardiac scan" is practical and easy to abide by. The optimal time for fetal cardiac examination is at 18～27 weeks of gestation. Four-chamber view together with the outflow tracts and three-vessel views examination can detect 69% of CHD in utero.

Objective To discuss the detection rate of chromosomal abnormalities in women with different indications for invasive prenatal diagnosis(amniocentesis and eordocentesis), and the procedure-related complications. Metheds A retrospective analysis was conducted on 1264 women, who underwent invasive prenatal diagnosis (1082 amniocentesis and 182 eordocentesis), and the procedure-related complications were reviewed. Results The indications for invasive prenatal diagnosis in these 1264 women were: increased risk at prenatal screening (651, 51.5%), advanced maternal age (≥35) (318, 25.2%), abnormal foundings through uhrasonograph (136, 10.8%),history of adverse pregnancy (88, 6.9%), one or two abnormal serologic markers (52,4.1%), and chromosomal balance translocation carrier in either one of the couple(19, 1.5%). Thirty-seven cases were found to be chromosomal abnormalities with clinic significance and the indications for them were: ultrasonic abnormality (20/136, 14.7%); increased risk at prenatal screening (12/651, 1.8%); one or two abnormal serologic markers (1/52, 1.9%); history of adverse-pregnant (1/88, 1.1%)chromosomal balance translocation carrier in either one of the couple (3/19, 15.8%); advanced maternal age (0/318). Among the 1264 cases, 5 experienced spontaneous abortion and the procedure-related fetal loss rates were 0.28% for amniocentesis (3/1082) and 1.09% for cordocentesis (2/182), P=0. 154. The rate of complications after cordocentesis was significantly higher than amniocentesis (9.89 % vs 0.18 %, P= 0.0001). Conclusions Routine fetal karyotyping should be prompted after prenatal ultrasonographic abnormalities. However, invasive prenatal diagnosis due to advanced maternal age alone is controversial. Amniocentesis is the fist choice for invasive prenatal diagnosis.

OBJECTIVETo report on a sporadic case of Lowe syndrome diagnosed prenatally with ultrasound examination and genetic testing.

METHODSDetailed sonographic fetal screening was performed by an experienced sonographer at 32 weeks of gestation. Fetal cranial magnetic resonance imaging (MRI) was applied to detect potential brain abnormality. Chromosomal microarray analysis (CMA) was conducted on amniotic fluid sample from the fetus and peripheral blood sample from the mother.

RESULTSCongenital cataract and enlarged posterior fossa were detected by fetal ultrasound screening. Fetal cranial MRI found hypoplasia of the gyrus. CMA revealed that the fetus has carried a 633 kb deletion at Xq25-26.1 which encompassed the OCRL gene. The mother was a carrier of the same deletion. Clinical examination after birth confirmed that the neonate was affected with Lowe syndrome in addition with an atrial septal defect.

CONCLUSIONPrenatal diagnosis of Lowe syndrome without a family history largely depends on fetal imaging. Should cataract be found by ultrasound screening, fetal MRI may be considered to rule out central nervous system anomalies. CMA assay should also be considered to facilitate the diagnosis.

Adult ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, X ; genetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; Infant ; Male ; Microarray Analysis ; Oculocerebrorenal Syndrome ; diagnosis ; embryology ; genetics ; Phosphoric Monoester Hydrolases ; genetics ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography, Prenatal

Objective:To explore the clinical significance of cervical length (CL) measured by transabdominal ultrasound during fetal structural anomalies screeing at 20-24 +6 weeks of gestation. Methods:This was a retrospective nested case-control study based on a prospective longitudinal cohort of "Prediction and Prevention of Early-onset Preeclampsia", which recruited 4 995 singleton pregnant women at the gestational age of 11-13 +6 weeks in Nanjing Drum Tower Hospital from April 2019 to August 2022. All the subjects underwent second-trimester ultrasound screening for fetal structural anomalies in our hospital with image records. This study excluded the women who were lost to follow-up, underwent cervical cerclage, terminated the pregnancy due to personal or social factors, or had miscarriage before 20 weeks of gestation, and those with iatrogenic preterm births, intrauterine fetal death or no second-trimester cervical sonography images. Propensity score matching was used to match pregnant women with spontaneous preterm birth ( n=101) and those with full-term delivery ( n=101) in a 1∶1 ratio, with factors of maternal age, body mass index, preterm birth history, cesarean section history, and pregnancy interval ≥5 years. CL was measured based on the retained ultrasound images. Nonparametric test or Chi-square test were used for statistical analysis. Receiver operating characteristic (ROC) curve was used to evaluate the correlation between CL measured by transabdominal ultrasound in the second trimester and spontaneous preterm birth. Results:The CL measured by transabdominal ultrasound at 20-24 +6 weeks of gestation was significantly shorter in the spontaneous preterm birth group than that in the full-term group [2.8 cm (2.5-3.3 cm) vs. 3.4 cm (3.0-3.9 cm), Z=－5.85, P<0.001]. If CL<3.4 cm was used as the cut-off value for predicting spontaneous preterm birth (20-36 +6 weeks), the specificity and the sensitivity were 0.50 and 0.77, respectively, and the sensitivity reached 0.92 for predicting preterm birth before 32 weeks and 1.00 for predicting preterm birth before 28 weeks. If CL<3.7 cm was used as the cut-off value, the specificity and the sensitivity were 0.36 and 0.87, respectively, and the sensitivity was 1.00 for predicting preterm birth before 32 weeks. The efficacy of preterm birth screening at 28-36 +6 weeks of gestation was comparable to that at 20-36 +6 weeks, if CL<3.4 cm and CL<3.7 cm were used as the cut-off value, the sensitivity were 0.76 and 0.86, respectively. Conclusion:Transabdominal ultrasound measurement of CL in the second trimester can be a preliminary screening to determine whether further transvaginal ultrasound measurement of CL is needed for women without a history of preterm birth or late spontaneous abortion.