Counselling for women during pregnancy is an important part of the obstetrician's tasks. When the patient is a pregnant woman whose fetus is found through ultrasound scanning to suffer from a congenital malformation, counselling becomes even more important. Objective: The objectives of this article are to explore women's perceptions of the ultrasound scanning and their satisfaction with the doctor's advice and investigate the factors affectted to the quality of counseling. Method: The research was conducted in Hanoi Obstetric Hosital, using participant observation and in-depth interviews with women pregnant with an anomalous fetus. Result: The research documents that women are not always satisfied with the counselling provided. Several factors affect the quality of counseling, notably the lack of trained health staff and the overload of work at the hospital. Conclusion: The article concludes that the counselling provided does not live up to women's expectations and that this has to do with the qualifications of health staff and the organization of hospital services. On the basis of the research, some recommendations are proposed in order to improve the quality of counselling, diagnosis and decision-making when a fetal malformation occurs
Congenital Abnormalities, Pregnancy, Counseling

Knowledge of developmental biology is essential for clinicians who seek to develop a rational approach to the diagnostic evaluation of patients with birth defects. After an accurate diagnosis, a clinician can make predictions about prognosis, recommend management options, and provide an indication of recurrence risk for the parents and relatives. In this paper, we first review the basic mechanisms of embryological development and clinical dysmorphology. We then review cellular and molecular mechanisms in development and related congenital anomalies. Developmental anomalies have a major impact on public health. Genetic counseling and prenatal diagnosis, with the option to continue or to terminate a pregnancy, are important for helping families faced with the risk of a serious congenital anomaly in their offspring. Moreover, primary prevention of birth defects, for example, supplementation of prenatal folic acid and prevention of consumption of alcohol which has teratogenic effects, can be accomplished using developmental biology knowledge.
Congenital Abnormalities ; Developmental Biology ; Folic Acid ; Genetic Counseling ; Humans ; Parents ; Parturition ; Pregnancy ; Prenatal Diagnosis ; Primary Prevention ; Prognosis ; Public Health ; Recurrence

The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to congenital defects and learning disabilities. Recently, the detection rate of 22q11.2 duplication has been increased by molecular techniques, such as array CGH. In this study, we report a familial case of 22q11.2 duplication detected prenatally. Her first pregnancy was terminated because of 22q11.2 duplication detected incidentally by BAC array CGH. The case was referred due to second pregnancy with same 22q11.2 duplication. We perfomed repeat amniocentesis for karyotype and FISH analysis. Karyotype analysis from amniocytes and parental lymphocytes were normal, while FISH analysis of interphase cells presented a duplication of 22q11.2 in the fetus and phenotypically normal mother. The fetal ultrasound showed grossly normal finding. After genetic counseling about variable phenotype with intrafamilial variability with 50% recurrence rate, the couple decided to continue the pregnancy. The newborn had no apparent congenital abnormalities until 2 weeks after birth. We recommend that family members of patients with a 22q11.2 duplication be tested by the interphase FISH analysis. Also, we point out the importance of genetic counseling and an evaluation of the clinical relevance of diagnostic test results.
Amniocentesis ; Congenital Abnormalities ; Diagnostic Tests, Routine ; Fetus ; Genetic Counseling ; Humans ; Infant, Newborn ; Interphase ; Karyotype ; Learning Disorders ; Lymphocytes ; Mothers ; Parents ; Phenotype ; Pregnancy ; Prenatal Diagnosis ; Recurrence

PURPOSE: This study aimed to evaluate the clinical usefulness of non-invasive prenatal testing (NIPT) as an alternative testing of invasive diagnostic testing in pregnancies with ultrasound abnormalities. MATERIALS AND METHODS: This was a retrospective study of pregnant women with abnormal ultrasound findings before 24 weeks of gestation between April 2016 and March 2017. Abnormal ultrasound findings included isolated increased nuchal translucency, structural anomalies, and soft markers. The NIPT or diagnostic test was conducted and NIPT detected trisomy 21 (T21), T18, T13 and sex chromosomal abnormalities. We analyzed the false positive and residual risks of NIPT based on the ultrasound findings. RESULTS: During the study period, 824 pregnant women had abnormal ultrasound findings. Among the study population, 139 patients (16.9%) underwent NIPT. When NIPT was solely performed in the patients with abnormal ultrasound findings, overall false positive risk was 2.2% and this study found residual risks of NIPT. However, the discordant results of NIPT differed according to the type of abnormal ultrasound findings. Discordant results were significant in the group with structural anomalies with 4.4% false positive rate. However, no discordant results were found in the group with single soft markers. CONCLUSION: This study found different efficacy of NIPT according to the ultrasound findings. The results emphasize the importance of individualized counseling for prenatal screening or diagnostic test based on the type of abnormal ultrasound.
Chromosome Aberrations ; Congenital Abnormalities ; Counseling ; Diagnostic Tests, Routine ; Down Syndrome ; Female ; Humans ; Nuchal Translucency Measurement ; Pregnancy* ; Pregnant Women ; Prenatal Diagnosis ; Retrospective Studies ; Ultrasonography*

OBJECTIVE: Due to advances in diagnosing fetal anomalies by ultrasound, prognosis of babies with anomalies, especially in urinary tract, has improved. However, multiple anomalies with poor prognosis are still noted. We analyze congenital defects which coexist with fetal urinary tract anomalies. METHODS:We identified all pregnancies complicated by fetal urinary tract anomalies which were followed and delivered from 1998 August to 2008 July at Yonsei University Health System. Fetal urinary tract defects were subdivided to hydronephrosis, multicystic dysplastic kidney, polycystic kidney disease, renal agenesis, renal duplication and horse-shoe kidney. A retrospective study was performed regarding both medical records and ultrasound findings. RESULTS: 236 (1.8%) in total 12,431 cases were identified with urinary tract defects and 25 (12.3%) cases had coexisting other anomalies. Hydronephrosis was found in 156 (68.2%) cases. Multicystic dysplastic kidney was found in 37 (15.6%) cases, renal duplication in 11 (4.7%), renal agenesis in 9 (3.8%), polycystic disease in 6 (2.5%) and horse-shoe kidney in 2 (1.0%). In 25 cases with coexisting anomalies, the most common type was congenital heart defect which was found in 9 (27.6%) cases. They were composed of 8 (24.5%) atrial septal defect and 1 (3.1%) ventricular septal defect combined with pulmonary atresia. Other coexisting anomalies were cerebral or gastrointestinal tract associated anomalies, Mullerian duct anomalies and polydactyly. Six in 9 (66.7%) fetuses with one kidney had other anomalies. CONCLUSION: Urinary tract anomalies in fetus seem to be associated with a variety of other malformation, especially cardiac anomalies. Detailed ultrasound or echocardiography should be carefully performed because of frequent coexisting fetal congenital anomalies. Furthermore, comprehensive prenatal counseling and postnatal evaluation and management will be needed.
Congenital Abnormalities ; Counseling ; Echocardiography ; Fetus ; Gastrointestinal Tract ; Heart Defects, Congenital ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Hydronephrosis ; Incidence ; Kidney ; Kidney Diseases ; Medical Records ; Multicystic Dysplastic Kidney ; Polycystic Kidney Diseases ; Polydactyly ; Pregnancy ; Prognosis ; Pulmonary Atresia ; Retrospective Studies ; Urinary Tract

OBJECTIVE: Due to advances in diagnosing fetal anomalies by ultrasound, prognosis of babies with anomalies, especially in urinary tract, has improved. However, multiple anomalies with poor prognosis are still noted. We analyze congenital defects which coexist with fetal urinary tract anomalies. METHODS:We identified all pregnancies complicated by fetal urinary tract anomalies which were followed and delivered from 1998 August to 2008 July at Yonsei University Health System. Fetal urinary tract defects were subdivided to hydronephrosis, multicystic dysplastic kidney, polycystic kidney disease, renal agenesis, renal duplication and horse-shoe kidney. A retrospective study was performed regarding both medical records and ultrasound findings. RESULTS: 236 (1.8%) in total 12,431 cases were identified with urinary tract defects and 25 (12.3%) cases had coexisting other anomalies. Hydronephrosis was found in 156 (68.2%) cases. Multicystic dysplastic kidney was found in 37 (15.6%) cases, renal duplication in 11 (4.7%), renal agenesis in 9 (3.8%), polycystic disease in 6 (2.5%) and horse-shoe kidney in 2 (1.0%). In 25 cases with coexisting anomalies, the most common type was congenital heart defect which was found in 9 (27.6%) cases. They were composed of 8 (24.5%) atrial septal defect and 1 (3.1%) ventricular septal defect combined with pulmonary atresia. Other coexisting anomalies were cerebral or gastrointestinal tract associated anomalies, Mullerian duct anomalies and polydactyly. Six in 9 (66.7%) fetuses with one kidney had other anomalies. CONCLUSION: Urinary tract anomalies in fetus seem to be associated with a variety of other malformation, especially cardiac anomalies. Detailed ultrasound or echocardiography should be carefully performed because of frequent coexisting fetal congenital anomalies. Furthermore, comprehensive prenatal counseling and postnatal evaluation and management will be needed.
Congenital Abnormalities ; Counseling ; Echocardiography ; Fetus ; Gastrointestinal Tract ; Heart Defects, Congenital ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Hydronephrosis ; Incidence ; Kidney ; Kidney Diseases ; Medical Records ; Multicystic Dysplastic Kidney ; Polycystic Kidney Diseases ; Polydactyly ; Pregnancy ; Prognosis ; Pulmonary Atresia ; Retrospective Studies ; Urinary Tract

PURPOSE: In Korea, pregnancy termination is frequently reported among women who took medications for an acute or chronic disease during pregnancy, for fear of teratogenic risk. We have previously shown that a service providing evidence-based information is helpful for women who week counseling to make a rational decision regarding their pregnancies. This study aimed to evaluate whether termination of pregnancy based on such perceptions, is justified using the 'DRug Exposure and risk Assessment in Moms' (DREAM) registry. METHODS: The study included 5,032 consenting pregnant women from the clinic and call center at the Korean Motherisk Program, from November 1999 to October 2008. The DREAM registry recorded the pregnancy outcomes (preterm birth, low birth weight, intrauterine fetal death, and congenital anomaly) of 3,328 women. RESULTS: Among women exposed to medications, time of exposure ranged from 3.5-4.6 weeks of gestation. There were 1,308 different drugs prescribed to these women. The drug most frequently prescribed was acetaminophen followed by chlorpheniramine maleate, and pseudoephedrine. There were 4.7% (n=156/3,328) women who underwent a voluntary abortion for fear of birth defects. We compared frequency of birth defects between exposed women and unexposed pregnant women in our institution during gestation. The frequency of major congenital malformations was 2.5% (n=74/2,977) in exposed group and 2.9% (n=75/2,573) in unexposed group (P=0.32). There was no statistically significant difference between exposed and control group in the rate of preterm births, intrauterine fetal death and low-birth weight babies. CONCLUSION: We did not observe increased risk of congenital malformations and adverse pregnancy outcomes in a population of pregnant women exposed to a variety of medications. Therefore these medications are not considered teratogen.
Acetaminophen ; Chlorpheniramine ; Chronic Disease ; Congenital Abnormalities ; Counseling ; Female ; Fetal Death ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Korea ; Maleates ; Parturition ; Pregnancy ; Pregnancy Outcome ; Pregnant Women ; Premature Birth ; Pseudoephedrine ; Risk Assessment