Routine Prenatal Ultrasound Examination Research Articles

The multiple reference range of mean uterine artery pulsatility index for natural and in vitro fertilization singletons during 11-14 gestational weeks.

Ultrasonography of the uterine artery (UtA) in the first and second trimesters of pregnancy can assess uterine-placental blood perfusion and guide early clinical prevention. Establishing normal ranges of the UtA pulsatility index (UtA-PI) at 11-14 weeks of pregnancy is helpful for the early identification of high-risk pregnant women and improving the prognosis. This study aimed to establish a reference range of UtA-PI based on crown-rump length (CRL) for spontaneous and in vitro fertilization (IVF) singleton pregnancy during 11-14 weeks, respectively. A prospective study was performed at Peking Union Medical College Hospital. Healthy, low-risk women with a singleton pregnancy at 11-14 gestational weeks were consecutively recruited for this study from December 2017 to December 2020. All participants underwent routine prenatal ultrasound examination. The CRL of the fetus and the UtA-PI were measured in both uterine arteries, and average values were calculated. The LMS method was used to fit the percentile (P)5, P10, P25, P50, P75, P90, and P95 curves of the UtA-PI value of spontaneous and IVF singleton pregnancy with CRL changes, respectively. A total of 1,962 pregnant women with normal fetuses were included in this study, including 1,792 pregnancies conceived naturally and 170 IVF fetuses. The UtA-PI reference range in the spontaneous pregnancy group was consistently higher than that in the IVF group during 11-14 weeks, and showed a statistically significant difference in UtA-PI for spontaneous and IVF pregnancies (P<0.001). According to the LMS method, each percentile curve of UtA-PI decreased with the increase of CRL in both the natural pregnancy group and the IVF group. The P95 range of UtA-PI for pregnant women with naturally conceived and IVF pregnancy was 2.74 to 2.11 and 2.50 to 1.94, respectively. The overall change of UtA-PI differentials of the two groups showed a downward trend and decreased slightly with the increase of CRL. This study provided a single-center, large sample of data and constructed a CRL-based reference value of UtA-PI for spontaneous and IVF singleton pregnancy, which provides a reliable basis for early UtA evaluation and early clinical decision-making during 11-14 gestational weeks.

Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies

BackgroundCarriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. Once fertilization of a balanced translocation gamete with a normal gamete, the partial monosomy or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformations. We reported a woman with chromosomal balanced translocation who had two adverse pregnancies. Prenatal diagnosis was made for her third pregnancy to provide genetic counseling and guide her fertility.Case presentationWe presented a woman with chromosomal balanced translocation who had three adverse pregnancies. Routine G banding and CNV-seq were used to analyze the chromosome karyotypes and copy number variants of amniotic fluid cells and peripheral blood. The karyotype of the woman was 46,XX,t(4;5)(q33;p15). During her first pregnancy, odinopoeia was performed due to fetal edema and abdominal fluid. The umbilical cord tissue of the fetus was examined by CNV-seq. The results showed a genomic gain of 24.18 Mb at 4q32.3-q35.2 and a genomic deletion of 10.84 Mb at 5p15.2-p15.33 and 2.36 Mb at 15q11.1-q11.2. During her second pregnancy, she did not receive a prenatal diagnosis because a routine prenatal ultrasound examination found no abnormalities. In 2016, she gave birth to a boy. The karyotype the of the boy was 46,XY,der(5)t(4;5)(q33;p15)mat. The results of CNV-seq showed a deletion of short arm of chromosome 5 capturing regions 5p15.2-p15.33, a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2, a duplication of chromosome 1 at segment 1q41q42.11 and a duplication of chromosome 17 at segment 17p12. During her third pregnancy, she underwent amniocentesis at 17 weeks of gestation. Chromosome karyotype hinted 46,XY,der(5)t(4;5)(q33;p15)mat. Results of CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.2p15.33 and a duplication of the distal region of chromosome 4 at segment 4q32.3q35.2.ConclusionsChromosomal abnormalities in three pregnancies were inherited from the mother. Preimplantation genetic diagnosis is recommended to prevent the birth of children with chromosomal abnormalities.

Right aortic arch with aberrant left subclavian artery—prenatal diagnosis and evaluation of postnatal outcomes: Report of three cases

Objective To present prenatal diagnosis of a right aortic arch (RAA) with an aberrant left subclavian artery (LSCA) by the three vessels and trachea (3VT) view using routine ultrasound and the newer technique of three-dimensional power Doppler ultrasound (3D-PDU) together with a discussion of the postnatal outcome. Case Reports Three fetuses having an RAA with an aberrant LSCA were diagnosed prenatally between January 2004 and June 2009. They were all detected at between 20 and 24 weeks by routine ultrasound examination at our hospital. All of them were diagnosed via the 3VT view of the fetal upper mediastinum using ultrasound, which revealed an abnormal U-shaped pattern instead of a normal V-shaped confluence; furthermore, 3D-PDU showed an abnormal RAA and an aberrant LSCA with a vascular ring. These abnormalities were not combined with any other congenital cardiac defects in our three cases. A normal chromosome complement was present without microdeletion of chromosome 22q11.2 in all three cases. Two of the cases were genetically assessed prenatally and the other was assessed postnatally. After delivery, diagnosis was confirmed by echocardiography and three-dimensional 64-slices helical computed tomography angiography. Two of the three fetuses were asymptomatic postnatally, whereas one fetus presented with symptoms of tracheoesophageal compression caused by the vascular ring, but this had improved by 8 months of age. Conclusion The 3VT view in routine prenatal ultrasound examination is important and essential for the prenatal diagnosis of an RAA with an aberrant LSCA. Moreover, 3D-PDU is able to provide a more clear-cut cardiovascular structure, which helps with the diagnosis.

First trimester uterine Doppler and three-dimensional ultrasound placental volume calculation in predicting pre-eclampsia

Objective To compare the efficacy of uterine artery Doppler velocimetry and three-dimensional ultrasound placental volume calculation alone or in combination in predicting at 11–14 weeks of gestation those pregnancies who will develop pre-eclampsia. Study design This was a prospective study of 348 nulliparous women scheduled for a routine prenatal ultrasound examination at 11–14 weeks. Color and pulsed wave Doppler was used to obtain uterine artery flow velocity waveforms transabdominally and the mean pulsatility index (PI) of the uterine arteries was calculated. The placental volume was measured by three-dimensional ultrasound using the virtual organ computer-aided analysis. Outcome variables considered were pre-eclampsia and pre-eclampsia requiring delivery <32 weeks. Results Pre-eclampsia developed in 4.1% of the patients studied and in 1.7% a delivery before 32 weeks was required. Placental volume resulted significantly lower in pregnancies who will develop pre-eclampsia ( t = 4.636, p < 0.003) and this was particularly evident in those pregnancies delivering <32 weeks ( t = 9.704, p < 0.0002). No relationship was found between placental volume and mean uterine artery PI ( r = −0.08, p = 0.327). Uterine artery PI and placental volume showed similar sensitivities in predicting pre-eclampsia (50% vs. 56%) and pre-eclampsia with delivery <32 weeks (66.7% vs. 66.7%). The combination of uterine artery PI and placental volume gave better results when compared to the single use of one of these parameters (pre-eclampsia sensitivity 68.7%, pre-eclampsia requiring delivery <32 weeks 83.3%). Conclusions The combination of abnormal uterine artery Doppler and low placental volume at 11–14 weeks achieves better results than does either test alone in the prediction of pre-eclampsia.

Screening for pre‐eclampsia and fetal growth restriction by uterine artery Doppler and PAPP‐A at 11–14 weeks' gestation

To assess the role of maternal demographic characteristics, uterine artery Doppler velocimetry, maternal serum pregnancy-associated plasma protein-A (PAPP-A) and their combination in screening for pre-eclampsia and small-for-gestational age (SGA) fetuses at 11-14 weeks. This was a prospective study of 878 consecutive women presenting for a routine prenatal ultrasound examination at 11-14 weeks. Pulsed wave Doppler was then used to obtain uterine artery flow velocity waveforms and the mean pulsatility index (PI) of the uterine arteries was calculated. Maternal serum samples for PAPP-A were assayed. Along with maternal history, these measurements were compared in their ability to predict adverse outcome, defined as pre-eclampsia and/or SGA and/or placental abruption. Mean uterine artery PI > or = 95(th) centile and PAPP-A < or = 10(th) centile each predicted 23% of the women that developed pre-eclampsia and 43% of cases of placental abruption. For SGA < or = 5(th) centile, mean uterine artery PI > or = 95(th) centile predicted 23% of cases and PAPP-A < or = 10(th) centile predicted 34%. Independent predictors for subsequent development of pre-eclampsia were increased mean uterine artery PI > or = 95(th) centile (OR, 2.76; 95% CI, 1.11-6.81) and maternal history of pre-eclampsia/hypertension (OR, 50.54; 95% CI, 10.52-242.73). The predicting factors for SGA < or = 5(th) centile were increased mean uterine artery PI > or = 95(th) centile (OR, 2.0; 95% CI, 1.07-3.74) and low PAPP-A (OR, 0.43; 95% CI, 0.20-0.93). Increased uterine artery PI was the only independent factor in the prediction of placental abruption (OR, 8.49; 95% CI, 2.78-25.94). The combination of uterine artery PI and maternal history of pre-eclampsia/hypertension was better than was using uterine artery Doppler alone in predicting pre-eclampsia. Similarly, for the prediction of SGA < or = 5(th) centile, combining uterine artery Doppler and maternal serum PAPP-A was better than was uterine artery Doppler alone. In both cases, the difference approached statistical significance. The combination of maternal history with abnormal uterine artery Doppler and low PAPP-A level at 11-14 weeks achieves better results than does either test alone in the prediction of pre-eclampsia and SGA.

Seeing baby: women's experience of prenatal ultrasound examination and unexpected fetal diagnosis

Although prenatal ultrasound (US) is a common clinical undertaking today, little information is available about women's experience of the procedure from the perspective of women themselves. The objective of this study was to explore women's experience of undergoing a routine prenatal US examination associated with an unexpected fetal diagnosis. Qualitative methods were used to explore the prenatal US experience of 13 women. Five women were given unexpected news of multiple pregnancy and eight women were given unexpected news of congenital fetal abnormality. One in-depth audio-taped interview was conducted with each woman. Content analysis of interview data identified themes common to women's experience of US. Identified themes of women's experience of routine prenatal US examination associated with an unexpected fetal diagnosis are: experiencing the setting, sensing information, feeling connected/disconnected, the power of the image, and communication rules. Women's experience of prenatal US examination is influenced by physical and environmental factors and by the behaviors of the US examiner. Behaviors of the examiner contribute to a woman's labeling of the US experience as positive or negative. Women identify being objectified by the examination and experience poor communication patterns after a fetal US diagnosis. Women's description of the US screen image as a baby suggests it is a powerful influence on subsequent clinical and ethical decision-making about the pregnancy.

An anatomical fetal brain structure and a normal variant mimicking anomalies on routine neurosonographic imaging: report of two cases

We present two cases in which an anatomical structure, the calcar avis, and a normal variant, a bifid choroid plexus, mimicked abnormalities on routine prenatal ultrasound examination. To the best of our knowledge these pitfalls have only been described in neonates. A familiarity with these false images is important to avoid erroneous diagnoses.

Renal dysplasia in children with posterior urethral valves: a primary or secondary malformation?

Routine prenatal ultrasound examination of the urogenital tract is of importance in patients with posterior urethral valves (PUV), because the renal function and long-term prognosis of these patients depend on early diagnosis and subsequent therapy. Opinion is divided as to whether the often-observed association of PUV with renal dysplasia represents a primary malformation or a secondary pathology caused by recurrent infections. These aspects should have an influence on therapeutic consequences and optimal timing of therapy in order to preserve long-term renal function. The histology of kidney specimens from 13 children with PUV who underwent nephrectomy was reviewed to attempt to differentiate between primary dysplastic malformations and secondary pathologies. Clinical data were analyzed and compared with the histologic findings. The average age at nephrectomy was 29 months (range 3-158 months). Approximately 80% of the specimens showed primary dysplastic malformations (mesenchymal or fetal cartilage tissue or dysplastic glomeruli and tubuli) in the presence of well-developed renal parenchyma. All specimens showed secondary pathologies such as renal-cortical atrophy, interstitial fibrosis, and interstitial-nephritis atrophy. The histologic evidence of well-differentiated renal parenchyma in concurrence with dysplastic parenchyma makes infravesical obstruction as the only cause of renal alterations in patients with PUV questionable. This coincides with the fact that organogenesis of the kidney is terminated at the 12th gestational week and secondary renal damage is irreversible at the 20th gestational week, but prenatal urinary diversion of the upper urinary tract is feasible in the 20th gestational week at the earliest. These facts must be taken into account when considering intrauterine urinary diversion.

Does routine prenatal ultrasound (US) examination detect fetal alcohol syndrome (FAS)?

359 DOES ROUTINE PRENATAL ULTRASOUND (US) EXAMINATION DETECT FETAL ALCOHOL SYNDROME (FAS)? KS ruder, SS Martier', B Gonik, RJ Sokol, Dept, of and Fetal Alcohol Research Center, Wayne State University. Detroit, ML OBJECTWE: To determine the value of roudne US screening in the antenatal detection of FAS. STUDY DESIGN: A ample ofaU pregnant heavy drinkers, randomly selected lighter drinkers and abstainers (n=2282) were identified and followed prospectively through delivery. Repeated, detailed maternal drug and alcohol histories were obtained antonatally, and neonates had dysmorphologic amsessment for FAS, by examination blinded to fetal alcohol exposure. 32 singleton births with s diagnosis of FAS and prenatal US examinations were each matched with two non-FAS neonates of comparable gu~----tationsi age at the time of US. Fetal biomsl~/and US detected anomalies were compared between the FAS and non-FAS groups using t-tosto end discriminent function analysis. RESULTS: The mean geatational age at the time of scanning (29.3+5.1 wks ve 27.0~7.2 wks) was no different. The identification of anomalies was similar (FAS 9.4% ve non-FAS 5.1%). In this sample, we were unable to identify gestations affected with FAS using US measurement of bi-pariatal diameter, orbito-frontsi diameter, abdominal cimurnferenco and percentile, femur kmgth, estimated fetal weight and percentile, and outer orbital diameter. Specif'¢ dysrnorphic features for FAS were not noted by US in any of the affected fetuses. CONCLUSIONS: While we have previously shown a higher rate of anomalies detected on prenatal US in fetuses heavily-exposed to alcohol, detecting anomalies in FAS cases is more difficult. FAS has specific dysmorphic features that are identifiable in the neonate, but dre subtle and may go unrecognized in the antenatal period with clinical US. FAS is rare and even in these ~,'wersiy affected fetuses only a limited proportion can be expected to have substantial, easily recognizable anomalies. Targeted US using intra-crenial and facial measurements, may improve detection of FAS in utero in an at-risk population. 361 FETAL BIni)IIOIEPIIROSlS~ 0UTCOIE & PRO~TIC INDICATORS. A.H. Adra,XlAqA. Mejides x , ~.S. Oennaoui x¢, S.N. Beycloun ~. D'e~pt. of Ob/Gyn & Pediatr ics , Universi ty of Miami, Miami, FL. OBJECTIVE: To study the outcome of fe te | hydronephrosis & ident i fy prognostic indicators. STUDY OESIGII: A tota l of 40 cases were retrospectively collected. Serial sonogralas were perfomed to assess the progression of hydronephrosis & evatuate amniotic f l u i d votumo (AFV). In cases of bladder out let obstruction (BOg), antenatal intervention consisted of bladder end/or kidney decompression. Postnatal evaluation consisted of renal ultrasound, voiding cystourethrogram and renal f low studies. Twenty nine infants were followed up to § years of age. Resutts: l l lpa|red Kidney b r i e r y Observation Function UPJ Obstruct. 22(55X) 14 8 1/16 BLadder Outlet Obstruction 9(23%) 5 0 515 VUJ Obstruct. 4 1 3 0/3 Double Collect. system 3 2 1 013 VU Reflux 2 0 2 0/2 Totat 40 22(61%) 14(39/.) 6•29 ALL patients had normal AFV except for 7/9 cases of BOB. Nean iestst ionat age at del ivery was 37.8 weeks. Fetal urine electrolytes & osmatarity correlated with kidney function at b i r th in 6/7 cases of 60Bt there 4 neonatal deaths occurred. The degree of feta l hydrenephrosis in UPJ obstruction dfd not correlate with Long term kidney function af ter b i r th . Conclusion: 1) The majori ty of infants born with congenital hydronephrosis do well with term del ivery except for those with bladder out let obstruction, where survivors invariably show various degrees of renal insuf f ic iency. 2) Infants with UPJ obstruction, the most common etiology of fe ta l hydrone~nrosis, usually have e favorable tong term prognosis i rrespect ive of the severi ty of intrauter ine hydronephrosis.3) AFV remains the best prognostic indicator for kidney function in utero.

Diagnosis and management of fetal neuroblastoma

At 36 weeks' gestation, in a 30-year-old patient, routine prenatal ultrasound examination revealed a cystic mass in the left adrenal gland. The pregnancy was uneventful, and at delivery the infant had a palpable left flank mass confirmed by ultrasound and computed tomography scan. There were no metastases. On the second day of life, a 5 cm cystic stage-I neuroblastoma was removed by adrenalectomy. The infant had an uneventful recovery, required no further treatment, and remains free of disease 26 months later.

Evaluation of routine prenatal ultrasound examination in detecting fetal chromosomal abnormalities in a low risk population

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. We have used our registry of congenital malformations to determine how many fetal anomalies and consequently how many chromosomal abnormalities are detected by this procedure. In our region, evaluation of prenatal diagnosis of chromosomal abnormalities in women of 38 years and younger (chromosomal prenatal diagnosis is offered to women > or = 38 years) with no personal or familial history of chromosomal anomaly was performed in 119,099 consecutive pregnancies of known outcome from 1980 to 1987. At least one ultrasonographic examination seeking congenital malformations was performed in more than 95% of the pregnant women studied. The total number of chromosomal anomalies during the study period was 199, 123 of these being Down syndrome. Only 41 (34.5%) of the 119 fetuses with chromosomal abnormalities and congenital malformation examined had been found to have a malformation at ultrasound examination. This low sensitivity was different for the diverse chromosomal abnormalities. Only 10 out of the 54 fetuses with Down syndrome and malformations (18.5%) were detected and only 3 out of 24 (12.5%) atrioventricular canal defects in those trisomic 21 patients were detected. Only 5 out of 11 (45.4%) fetuses with trisomy 13, 13 out of 26 (50.0%) fetuses with trisomy 18, 7 out of 12 patients with monosomy X (58.3%) and 6 out of 27 (22.2%) fetuses with other chromosomal abnormalities were diagnosed. Moreover, the time of detection of these anomalies was early enough to allow amniocentesis and termination of pregnancy in the case of a chromosomal abnormality in only 15 out of these 41 patients, including 7 cases of cystic hygroma in fetuses with monosomy X. This low sensitivity is not the result of the quality of the ultrasound equipment. It may be explained by the inadequate qualification of some operators and by the insufficient duration of the routine examination. In conclusion, our study has shown that the sensitivity of the detection of chromosomal abnormalities by routine prenatal ultrasound screening is low. Other screening methods are needed.