PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. RESULTS: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. CONCLUSION: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.
Amniocentesis ; Chorionic Villi Sampling ; Cordocentesis ; Cytogenetic Analysis ; Female ; Fetus ; Genetic Counseling ; Humans ; Mothers ; Parents ; Pregnancy ; Prenatal Diagnosis ; Prognosis ; Translocation, Genetic ; Ultrasonography* ; Ultrasonography, Prenatal

BACKGROUND: Iodine is an intrinsic element of thyroid hormone, which is essential for childhood growth and development. The Ideal Breast Milk (IBM) cohort study aims to evaluate the effects of maternal iodine status during pregnancy and lactation on maternal thyroid function, offspring growth and development, and offspring thyroid function. METHODS: The IBM cohort study recruited pregnant women from Seoul National University Hospital between June 2016 and August 2017, followed by enrollment of their offspring after delivery. For the maternal participants, iodine status is evaluated by urinary iodine concentration (UIC) and dietary records in the third trimester and at 3 to 4 weeks and 12 to 15 months postpartum. For the child participants, cord blood sampling and UIC measurements are performed at birth. At 3 to 4 weeks of age, UIC and breastmilk iodine concentrations are measured. At 12 to 15 months of age, growth and development are assessed and measurements of UIC, a thyroid function test, and ultrasonography are performed. RESULTS: A total of 198 pregnant women in their third trimester were recruited. Their mean age was 35.1±3.5 years, and 78 (39.4%) of them were pregnant with twins. Thirty-three (16.7%) of them had a previous history of thyroid disease. CONCLUSION: Korea is an iodine-replete area. In particular, lactating women in Korea are commonly exposed to excess iodine due to the traditional practice of consuming brown seaweed soup postpartum. The study of the IBM cohort is expected to contribute to developing guidelines for optimal iodine nutrition in pregnant or lactating women.
Breast* ; Child ; Cohort Studies* ; Cordocentesis ; Diet Records ; Female ; Growth and Development* ; Humans ; Infant ; Iodine* ; Korea ; Lactation* ; Milk, Human* ; Parturition ; Postpartum Period ; Pregnancy Trimester, Third ; Pregnancy* ; Pregnant Women ; Prospective Studies* ; Seaweed ; Seoul ; Thyroid Diseases ; Thyroid Function Tests ; Thyroid Gland* ; Twins ; Ultrasonography

A 35-year-old pregnant woman visited our department and had been treated with 100 microg of daily oral levothyroxine for hypothyroidism. An ultrasonography screening was performed at 25 weeks gestation and revealed a fetal goiter and an increased amniotic fluid volume. Fetal hypothyroidism was confirmed by cordocentesis and amniotic hormone levels at 26 weeks gestation. We treated the mother with 200 microg of daily oral levothyroxine to optimize the transplacental transfer. A total of four intra-amniotic injections of levothyroxine were administered, resulting in progressive reduction in the fetal thyroid volume of goiter as measured by 3D ultrasonography and increased amniotic fluid volume. Following birth, neonatal serum thyroid stimulating hormone level was within the normal range, but free T4 was reduced. Based on this case, we suggest that monitoring amniotic fluid thyroid hormone concentration and intra-amniotic levothyroxine injection can be used to reduce the thyroid volume of goiters and to prevent polyhydramnios.
Adult ; Amniotic Fluid ; Cordocentesis ; Female ; Goiter* ; Humans ; Hypothyroidism ; Mass Screening ; Mothers ; Parturition ; Polyhydramnios ; Pregnancy ; Pregnant Women ; Reference Values ; Thyroid Gland ; Thyrotropin ; Thyroxine* ; Ultrasonography

PURPOSE: Molecular genetic analysis is the main approach used for prenatal diagnosis of hemophilia A and B. However, in certain cases, such analysis is uninformative. In such situations, direct measurement of fetal coagulation factor levels is still the best option, and it may be the only option in some cases. This study was conducted to determine the normal ranges of midtrimester cord blood factor VIII (FVIII) and IX (FIX) in a Korean population. MATERIALS AND METHODS: Twenty-six FVIII samples and 29 FIX samples were assayed in fetal cord blood acquired by ultrasound-guided cordocentesis. Sampling was conducted during gestational ages of 19-24 weeks. RESULTS: The mean and standard deviations for FVIII and FIX activity were 45.5±30.5% and 19.9±12.2%, respectively. Ranges for FVIII and FIX were 1.5-125.0% and 6.0-52.0%, respectively. CONCLUSION: Our study revealed the normal ranges and lowest level of factor VIII and factor IX in non-affected normal fetus by fetal cord blood sampling during the mid-trimester in a Korea population. The factor assay of the fetal cord blood is invasive but feasible and provides important basic data related to hemophilia.
Blood Coagulation Factors ; Cordocentesis ; Factor IX ; Factor VIII* ; Female ; Fetal Blood* ; Fetus* ; Gestational Age ; Hemophilia A* ; Humans ; Korea ; Molecular Biology ; Pregnancy ; Pregnancy Trimester, Second ; Prenatal Diagnosis ; Reference Values

Congenital fetal goiter is a very rare pathology, is sometimes difficult to diagnose when there is no maternal history or the goiter size is moderate. We report a case of prenatally diagnosed fetal goiter in a euthyroid mother. A 28-year-old woman was referred to our clinic at 38(+2) weeks of gestation. Ultrasonographic examination revealed a fetal goiter. The maternal history and thyroid function tests, including antithyroid autoantibody tests, were unremarkable. Cesarean section was performed, and the thyroid profile of the neonate was consistent with congenital hypothyroidism. Thyroxine therapy was immediately started. Fetal thyroid function must be determined when a goiter is detected. Cordocentesis is a more reliable but riskier diagnostic tool than amniocentesis. Intra-amniotic injection of thyroxine is relatively safe and an easier management option for fetal hypothyroidism. To develop more noninvasive and safe methods for therapeutic efficacy monitoring, a large-scale study is necessary.
Adult ; Amniocentesis ; Cesarean Section ; Congenital Hypothyroidism ; Cordocentesis ; Female ; Goiter* ; Humans ; Hypothyroidism ; Infant, Newborn ; Mothers* ; Pathology ; Pregnancy ; Prenatal Diagnosis* ; Thyroid Function Tests ; Thyroid Gland ; Thyroxine

OBJECTIVE: To evaluate the safety, effectiveness and complications of serial invasive prenatal diagnostic techniques, and to investigate the prenatal diagnosis indication as well as to analyze the abnormal chromosomal karyotype. METHODS: We retrospectively studied all patients from March 2005 to May 2012 who received amniocentesis and cordocentesis in the prenatal diagnosis center of Second Xiangya Hospital. The indication of the procedure, successful rate and complications were evaluated, and 25 abnormal chromosome nuclear types were analyzed. RESULTS: A total of 669 patients received invasive prenatal diagnosis from March 2005 to May 2012 in Second Xiangya Hospital: 598 received amniocentesis and 71 cordocentesis carried out. Compared with the cordocentesis group, the amniocentesis group had higher achievement ratio (91.54% vs 100%, P<0.05), lower spontaneous abortion rate (1.41% vs 0.33%, P<0.05), fewer abnormal karyotypes (11.27% vs 2.84%, P<0.05) and lower expenditure (880 yuan vs 800 yuan, P<0.05). Positive screening, advanced maternal age, and ultrasonography abnormality were the top 3 indications of amniocentesis and cordocentesis. We found 25 abnormal karyotypes, including 6 cases of trisomy 21, 4 sex chromosomal abnormalities, 7 autosomal balanced translocations, 1 marker chromosome, and 7 mosaics. CONCLUSION As a widely used invasive prenatal diagnosis, amniocentesis is safe and effective. The complications of cordocentesis are much higher than those of amniocentesis, which is not a proper routine procedure for prenatal diagnosis of abnormal karyotype. The analysis of karyotype not only can identify fetal chromosome abnormality, but also provide the scientific basis for pregnancy continuation, thus reducing the ratio of birth defect.
Abnormal Karyotype ; statistics & numerical data ; Adult ; Amniocentesis ; methods ; Cordocentesis ; adverse effects ; methods ; Evaluation Studies as Topic ; Female ; Humans ; Karyotyping ; methods ; Pregnancy ; Prenatal Diagnosis ; methods ; Retrospective Studies

OBJECTIVE: We undertook this study to determine the clinical characteristics and the prognostic factors of neonatal survival in patients with fetal anemia who were treated by intraumbilical venous transfusion (IUT). METHODS: From July 2000 to March 2009, 16 cases of fetal anemia were diagnosed at Asan Medical Center in Seoul, Korea. These patients underwent intraumbilical venous transfusions and were thus included in our study. Doppler measurement of the middle cerebral artery peak systolic velocity was performed before and after cordocentesis in all fetuses. RESULTS: The gestational age at the time of the diagnosis of anemia ranged from 21.3 to 33.6 weeks. There was a linear correlation between pre- and post-procedure fetal hemoglobin (Hb,MoM, (x)) and the MCA-PSV (MoM, (y)), i.e., y=0.810-0.229x, r2=0.542, CI 0.316-0.141, p<0.005; and y=1.374-0.391x, r2=0.499, CI 0.584-0.197, p<0.005. The survival was better in patients with severe anemia than those with mild to moderate anemia (p<0.05), and survival was better in patients with anemia of a known cause than those with anemia of an unknown cause (p<0.001). CONCLUSION: In fetuses with anemia, the severity of the anemia before IUT and the change of hemoglobin concentration after IUT, can be estimated noninvasively using Doppler ultrasonography, on the basis of an increase in the peak velocity of systolic blood flow in the middle cerebral artery. Both severity and etiology were meaningful factors for the survival of neonates with fetal anemia who were treated by intraumbilical venous transfusion. Although fetuses have severe anemia, they expected improved survival through IUT. These data are valuable information for use when counseling the parents of an affected fetus.
Anemia ; Blood Transfusion, Intrauterine ; Cordocentesis ; Counseling ; Fetal Hemoglobin ; Fetus ; Gestational Age ; Hemoglobins ; Humans ; Hydrops Fetalis ; Infant, Newborn ; Korea ; Middle Cerebral Artery ; Parents ; Ultrasonography, Doppler

We present two fetuses who were prenatally diagnosed by amniocentesis as having chromosomal mosaicism but who had a normal karyotype in the fetal blood by cordocentesis. One of the both fetuses had Turner and the other had trisomy 20 mosaicism. The prognosis for Turner mosaicism and trisomy 20 mosaicism diagnosed prenatally has yet to be established. The pregnancy with 45,X/46,XX mosaicism was terminated at 23+3 weeks' gestation. Autopsy findings showed no features of Turner's syndrome. Postnatal cytogenetic analysis revealed 45,X[4]/46,XX[52] mosaicism in skin and 46,XX in the lung tissue. The other fetus had amniocytes with trisomy 20 mosaicism and fetal cord blood cells with a normal karyotype. The baby was delivered at 38+2 weeks' gestation. At birth and 3 months after birth, no apparent abnormal findings were found. These cases with chromosomal discrepancy among various fetal tissues are rare. Two cases were discussed with the review of literature.
Amniocentesis ; Amniotic Fluid ; Autopsy ; Chromosomes, Human, Pair 20 ; Cordocentesis ; Cytogenetic Analysis ; Cytogenetics ; Female ; Fetal Blood ; Fetus ; Karyotype ; Lung ; Mosaicism ; Parturition ; Pregnancy ; Prognosis ; Skin ; Trisomy ; Turner Syndrome

For definitive antenatal diagnosis of fetal aneuploidy, invasive tests such as chorionic villous sampling, amniocentesis and cordocentesis are required for chromosome analysis. However, to reduce the risk of miscarriage associated with procedural complications, it is important to detect pregnant women with high risk of fetal aneuploidy. Recently, there have been advances in maternal serum and sonographic markers for screening of chromosomal defects in the first and second trimester. The serum screening methods include first trimester screening with nuchal translucency and second trimester multi marker screening. Particularly, combining first and second trimester results can increase the detection rate of Down syndrome with lower false-positive rates. In addition to biochemical markers, second trimester sonogram to detect major and minor sonographic markers for chromosomal defects is important to identify the high risk pregnancy. To detect the fetal aneuploidy with high specificity and sensitivity, we need to interpret the maternal age, the results of first and second trimester serum markers and genetic sonographic findings all together.
Abortion, Spontaneous ; Amniocentesis ; Aneuploidy ; Biomarkers ; Chorion ; Cordocentesis ; Down Syndrome ; Female ; Humans ; Mass Screening ; Maternal Age ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Pregnancy, High-Risk ; Pregnant Women ; Prenatal Diagnosis ; Sensitivity and Specificity

A 28-year-old primi gravida visited our department at 20 weeks gestation. The ultrasound screening revealed twin gestation, and follow up screening revealed a bilobed large fetal neck mass in the 1st twin. We measured thyroid volume with ultrasound which was 5.072 cm3. Other fetal organs appeared normal. Cordocentesis was performed for fetal thyroid function and congenital hypothyroidism was confirmed. In addition, maternal thyroid hormones were checked. The other fetus was normal. Thyroid stimulating hormone (TSH) in the maternal serum was increased, but thyroxine (T3) was (within normal range). Two weeks later, we checked TSH and free T4 in amniotic fluid and administered intra-amniotic thyroxine (200 ?g). We repeated the procedures 2 more times in two consecutive weeks. After 3 intra-amniotic thyroxine injection, follow-up cordocentesis revealed euthyroid status of the fetus. Although the thyroid gland had decreased in size and volume, it was still goitrous. At 36 weeks of gestation, the patient was admitted for preterm premature rupture of the membranes and the twin was delivered vaginally. The 1st twin was proved as an euthyroid status and antithyroid antibody was not detected. During the 3 years follow up, the baby had no considerable developmental problem. The intrauterine recognition and treatment of congenital goitrous hypothyroidism may not only reduce the obstetric complications associated with large goiters, but possibly improve the prognosis for normal growth and mental development of affected fetuses.
Adult ; Amniotic Fluid ; Congenital Hypothyroidism ; Cordocentesis ; Female ; Fetal Membranes, Premature Rupture ; Fetus ; Follow-Up Studies ; Goiter ; Humans ; Hypothyroidism ; Mass Screening ; Membranes ; Neck ; Pregnancy ; Prognosis ; Rupture ; Thyroid Gland ; Thyroid Hormones ; Thyrotropin ; Thyroxine ; Twins