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*

Although conventional prenatal screening tests for Down syndrome have been developed over the past 20 years, the positive predictive value of these tests is around 5%. Through these tests, many pregnant women have taken invasive tests including chorionic villi sampling and amniocentesis for confirming Down syndrome. Invasive test carries the risk of fetal loss at a low but significant rate. There is a large amount of evidence that non-invasive prenatal test (NIPT) using cell free DNA in maternal serum is more sensitive and specific than conventional maternal serum and/or ultrasound screening. Therefore implementing NIPT will increase aneuploidy detection rate and concurrently decrease fetal loss rate accompanying invasive test. More than 1,000,000 NIPT were performed globally since 2011. The uptake rate of NIPT is expected to increase more rapidly in the future. Moreover, as a molecular genetic technique advances, NIPT can be used for not only common aneuploidy screening but single gene disorder, microdeletion, and whole fetal genome sequencing. In this review, I will focus on the NIPT for common aneuploidies such as trisomy 13, 18, and 21.
Amniocentesis ; Aneuploidy ; Chorionic Villi Sampling ; DNA* ; Down Syndrome ; Female ; Genome ; Humans ; Mass Screening ; Maternal Serum Screening Tests ; Molecular Biology ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis ; Trisomy ; Ultrasonography

Down syndrome screening with cell-free DNA (cfDNA) in the maternal plasma has recently received much attention in the prenatal diagnostic field. Indeed, a large amount of evidence has already accumulated to show that screening tests with cfDNA are more sensitive and specific than conventional maternal serum and/or ultrasound screening. Globally, more than 1,000,000 of these noninvasive prenatal tests (NIPTs) have been performed to date. There are several different methods for NIPTs that are currently commercially available, including shotgun massively parallel sequencing, targeted massively parallel sequencing, and single nucleotide polymorphism (SNP)-based methods. All of these methods have their own advantages and disadvantages. In this review, I will focus specifically on the SNP-based NIPT.
DNA ; Down Syndrome ; High-Throughput Nucleotide Sequencing ; Mass Screening ; Plasma ; Polymorphism, Single Nucleotide ; Prenatal Diagnosis ; Ultrasonography

Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic ultrasonography is also widely used and can help increase detection rates. To date, many soft markers, including choroid plexus cysts, echogenic intracardiac foci, mild ventriculomegaly, nuchal fold thickening, echogenic bowel, mild pyelectasis, short femur and humerus length, and absent or hypoplastic nasal bone, have been reported. An aberrant right subclavian artery was the most novel soft marker introduced. Because these soft markers involve diverse relative risks of chromosomal abnormalities, it is difficult to apply them to clinical practice. To optimize the efficacy of genetic ultrasonography, it is important to understand the precise relative risks of chromosomal abnormalities innumerous soft markers and integrate these risks with each other and the results of maternal serum screening.
Choroid Plexus ; Chromosome Aberrations* ; Down Syndrome ; Echogenic Bowel ; Femur ; Humerus ; Mass Screening ; Nasal Bone ; Nuchal Translucency Measurement ; Pyelectasis ; Subclavian Artery ; Ultrasonography*

Neural tube defects are the major targets of prenatal diagnoses, along with Down syndrome. Prenatal diagnosis of spina bifida is possible at second trimester of gestation through alpha-fetoprotein and acetylcholinesterase biochemistry assays and ultrasound. In particular, the discovery of characteristic intracranial signs on ultrasound leads to a very high diagnosis rate. However, it is rare for spina bifida to present without intracranial signs while also showing normal values of maternal serum alpha-fetoprotein, amniotic fluid alpha-fetoprotein, and acetylcholinesterase. In our hospital, a fetus with spina bifida was delivered at 37+5 weeks' gestation by cesarean section, and was continually followed up over 2 years to date.
Acetylcholinesterase* ; alpha-Fetoproteins* ; Amniotic Fluid* ; Biochemistry ; Cesarean Section ; Diagnosis ; Down Syndrome ; Female ; Fetus ; Humans ; Meningocele ; Meningomyelocele* ; Neural Tube Defects ; Pregnancy ; Pregnancy Trimester, Second ; Prenatal Diagnosis ; Reference Values ; Spinal Dysraphism ; Ultrasonography*

OBJECTIVETo investigate the correlation between fetal chromosomal abnormalities and the characteristic features of prenatal ultrasound findings.

METHODSA total of 510 cases were underwent chromosome examination by amniotic fluid or cord blood analysis to identify fetal chromosomal abnormalities. The correlation between the abnormalities and the characteristics of the prenatal ultrasound findings was analyzed.

RESULTSFifty-three cases of abnormal karyotypes were detected with a positivity rate of 10.2%. Of these cases, 32 cases had chromosome number abnormalities, including 15 with 21-trisomy, 11 with 18-trisomy, 2 with 13-trisomy, 2 with 45, XO monomer and 2 with 92, XXXX tetraploid. Chromosome structural abnormalities were found in 21 cases, including 4 with translocation, 3 with insertion, 6 with inversion, 4 with deletion and 4 with derivation. Prenatal ultrasound showed obvious structural abnormalities in 22 cases (41.5%), structural malformation with ultrasonographic soft markers in 18 cases (34.0%), and separate ultrasonographic soft markers in 8 cases (15.1%).

CONCLUSIONPrenatal ultrasound fetal abnormalities and chromosome abnormalities are closely related. Prenatal ultrasound of fetal chromosomal abnormalities usually presents with a variety of significant structural abnormalities. A greater number of malformations is associated with a greater risk of chromosomal abnormalities and increased occurrence of ultrasonographic soft markers.

Adult ; Chromosome Aberrations ; Chromosomes, Human, Pair 18 ; Down Syndrome ; diagnosis ; Female ; Fetal Diseases ; diagnosis ; diagnostic imaging ; Humans ; Pregnancy ; Trisomy ; diagnosis ; Ultrasonography, Prenatal ; methods

We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28(+3) weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management.
Adult ; Down Syndrome/*ultrasonography ; Female ; Fetal Blood/cytology ; Fetal Death ; Fetal Diseases/*diagnosis ; Hepatomegaly/ultrasonography ; Humans ; Leukocytosis/diagnosis ; *Myelopoiesis ; Pregnancy ; *Prenatal Diagnosis ; Splenomegaly/ultrasonography ; Thrombocytopenia/diagnosis

Background: Down syndrome is a developmental disorder caused by an extra copy of chromosome 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. It affects about 1 in every 700 babies. The fetus having high risk for Down syndrome (OS) can be detected early by ultrasound. Objectives: The aim of the study is to find out some ultrasound markers that relate to OS fetus. Subjects and method: A descriptive study was carried out on 612 pregnant women with fetus \ufffd?12 weeks by ultrasound to detect abnormal markers in fetus. The fetus were diagnosed Down syndrome by analysis chromosome from amniocyte and monitor up to the neonate. Then, finding out association between OS fetus and ultrasound markers. Results: Among 612 pregnant women,36/12 pregnant women had abnormal imaging in fetus, 11/12 pregnant women had OS fetus. There were 12 pregnant women detected OS fetus. 6/12 OS fetus associated with the maker of nuchal skin fold (cut off 2: 3mm at the first trimester and 2: 6 mm at the second trimester): Detection rate (DR) was 50%; false positive rate (FOR): 0,83%. 3/12 OS fetus associated with the marker of duodenal atresia. DR was 25%; FOR: 0%. Conclusions: The two common markers associated with OS fetus: \r\n', u'the first marker was nuchal skin fold (with cut off 2: 3mm at the first trimester and > 6 mm at the second trimester) and the second marker was duodenal atresia. \r\n', u' \r\n', u'
Down Syndrome ; Fetus/ anatomy & ; histology ; abnormalities ; physiopathology ; ultrasonography

BACKGROUND: Maternal serum triple marker screening (alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol) can detect 60-70% of Down syndrome and 60% of Edwards syndrome. Previous studies have reported that positive serum screening is related to other fetal chromosomal abnormalities, pregnancy complications, and adverse outcomes. We determined the incidence and karyotype of chromosomal abnormalities in screen positive women and evaluated a relationship between chromosomal and ultrasonographic abnormalities. METHODS: Of the 49,806 pregnant women between 15 and 23 weeks' gestational age who received prenatal serum screening with a cut-off value (a risk of 1:270 for Down and 1:100 for Edwards syndrome), 2,116 (4.2%) and 196 (0.4%) were screen positive for Down syndrome and for Edwards syndrome, respectively. Chromosomal analysis in amniotic fluid was performed for 1,893 (89.5%) of the Down positive and 140 (71.4%) of the Edwards positive pregnant women. Ultrasonographic examination was performed to detect fetal abnormalities. RESULTS: Eighty-three cases of chromosomal abnormalities including 40 trisomy 21 (2.1%) and 43 other chromosomal abnormalities (2.3%) were identified in the Down screen positive. Other chromosomal abnormalities included 9 numerical and 34 structural abnormalities. Ten cases of chromosomal abnormalities (9 trisomy 18 and 1 trisomy 9) were detected in the Edwards screen positive. Ultrasonographic abnormalities were found more frequently in the women who had chromosomal aberrations. CONCLUSIONS: These data suggest that 4.4% of the Down screen and 7.1% of the Edwards screen positive pregnancy have fetal chromosomal abnormalities. Positive Down screening results reflect a relatively high probability of other abnormalities except trisomy 21. Edwards screen positive group show a low frequency of other chromosomal abnormalities except trisomy 18. A simultaneous use of maternal serum screening and ultrasonograms could be useful for the diagnosis of fetal abnormalities.
Amniotic Fluid ; Chorionic Gonadotropin ; Chromosome Aberrations ; Diagnosis ; Down Syndrome ; Female ; Gestational Age ; Humans ; Incidence ; Karyotype ; Mass Screening ; Pregnancy ; Pregnancy Complications ; Pregnant Women* ; Trisomy ; Ultrasonography

OBJECTIVE: The objective of this study is to evaluate the natural course, postnatal outcome, and association between the degree of ventriculomegaly and neurodevelopmental delay in isolated fetal ventriculomegaly. METHODS: We reviewed the medical records of pregnant women diagnosed with isolated fetal ventriculomegaly from October 1996 to June 2004. We defined mild ventriculomegaly as atrial width of 10-14.9 mm and overt ventriculomegaly as 15 mm or more. Neonatal brain ultrasonography was performed in all cases and brain MRI was performed as necessary. Neurodevelopmental outcome was evaluated by medical records and telephone interviews. We analyzed the final outcome of isolated fetal ventriculomegaly according to the ventricular width. RESULTS: There were 175 cases of isolated fetal ventriculomegaly, with a large proportion of male fetuses (68.6%), and one case of trisomy 21. While the group with prenatally resolved ventriculomegaly (n=119) had a smaller ventricular width and more unilaterality, there was no resolution in cases with a ventricular width of 15 mm or more. One hundred and thirty one fetuses with an initial ventricular width of 10 to 11.9 mm had no developmental delay, however, there were 2 cases of cerebral palsy and 2 cases of genetic disorder. Seventeen fetuses had ventricular dilatation of 15 mm or more, with 6 corresponding cases of developmental delay and one case of cerebral palsy. CONCLUSION: Among isolated fetal ventriculomegaly, mild, unilateral or stable ventriculomegaly seems to have a favorable neurological outcome, especially those cases with ventricular width of less than 12 mm. However, management of the condition and counseling of parents are still crucial, because it can be a marker of genetic disorder or brain developmental delay.
Brain ; Cerebral Palsy ; Counseling ; Dilatation ; Down Syndrome ; Female ; Fetus ; Humans ; Interviews as Topic ; Magnetic Resonance Imaging ; Male ; Medical Records ; Parents ; Pregnant Women ; Retrospective Studies* ; Ultrasonography