First trimester diagnosis of sirenomelia: a case report and review of the literature

Sirenomelia sequence is a rare lethal pattern of congenital anomalies characterized by a number of hallmark skeletal anomalies, including fusion of the lower extremities or a single lower limb, bilateral renal agenesis or dysgenesis with absent or hypoplastic renal arteries, oligohydramnios, and the presence of aberrant vasculature. The etiology is still controversial. Prognosis is very poor, with the babies being stillborn or succumbing soon after birth. In the second trimester, oligohydramnios due to renal agenesis makes the diagnosis of sirenomelia difficult. Conversely, in the first trimester, the amniotic fluid volume is usually normal, unrelated to the fetal urine production. Therefore, a first-trimester or early second trimester anatomic survey of the fetus is proposed as preferable and more accurate for the diagnosis of this rare anomaly. In this article, we report a case of sirenomelia detected by two- and three-dimensional ultrasound in the 11th week of gestation and the associated literature is discussed.     

First trimester termination of pregnancy

First trimester termination of pregnancy (TOP) is a safe and effective procedure. The complete abortion rates of surgical and medical abortion are approximately 97% and 95%, respectively. Vacuum aspiration (VA) either by electrical suction or manual aspiration is the method of choice for surgical TOP. Risk of significant bleeding is ≤ 5% in VA, while major complications occur in <1%. The risk of infection after VA can be reduced significantly by using prophylactic antibiotics or by the screen-and-treat strategy. Pre-operative administration of misoprostol can also reduce the risk of complications. The combination of 200 mg mifepristone followed by 800 μg misoprostol 24–48 h later is recommended for first trimester medical TOP. If mifepristone is not available, misoprostol can also be used alone, but repeated doses may be required and the complete abortion rate may be lower. Due to the reduced efficacy in more advanced gestation, repeated doses of misoprostol may be required for medical TOP over 9 weeks of gestation. The complete abortion rate with this regimen is 95% or more. Gastrointestinal upsets can occur in up to 50% of women, but major complications are rare. There was no lower limit of gestational week for TOP, although extra precaution is required for the confirmation of completion of procedures and exclusion of ectopic pregnancy.     

First trimester urinary placental growth factor and development of pre-eclampsia

Objective  To compare urinary placental growth factor (PlGF) concentration at 11⁺⁰ to 13⁺⁶ weeks of gestation in women who subsequently develop pre-eclampsia with normotensive controls.
Design  Nested case–control study within a prospective study for first trimester prediction of pre-eclampsia.
Setting  Routine antenatal visit in a teaching hospital.
Population  Fifty-two women who developed pre-eclampsia and 52 controls matched for gestational age and sample storage time.
Methods  Urinary PlGF concentration and PlGF to creatinine ratio were measured in women who developed pre-eclampsia and their matched controls. Comparisons between groups were performed using Student's t test.
Main outcome measures  Development of pre-eclampsia.
Results  In the pre-eclampsia group, the median urinary PlGF concentration (20.6 pg/ml, interquartile range [IQR] 9.1–32.0 pg/ml) and median urinary PlGF to creatinine ratio (1.6 pg/mg, IQR 1.2–2.5 pg/mg) were not significantly different from the control group (11.8 pg/ml, IQR 5.5–29.8 pg/ml, P = 0.1 and 1.7 pg/mg, IQR 1.2–2.3 pg/mg, P = 0.3, respectively). There were no significant differences between women with early-onset pre-eclampsia requiring delivery before 34 weeks ( n = 13) and those with late-onset pre-eclampsia ( n = 39) and between women with pre-eclampsia and fetal growth restriction (FGR) ( n = 25) and those with pre-eclampsia and no FGR ( n = 27) in either median PlGF concentration or median urinary PlGF to creatinine ratio.
Conclusions  The development of pre-eclampsia is not preceded by altered urinary PlGF concentration in the first trimester of pregnancy.     

First trimester ultrasound diagnosis of congenital diaphragmatic hernia

Congenital diaphragmatic hernia is a rare structural defect, usually diagnosed in the second or third trimester of pregnancy. We present here a case of left-sided diaphragmatic hernia diagnosed at 12 weeks of gestation and a short review of published reports on first trimester diagnosis of this defect. Ultrasound diagnosis of congenital diaphragmatic hernia cases, with early herniation of the viscera in the thorax, is feasible during the first trimester. The prerequisite is the systematic examination of the fetal anatomy. Hallmarks of the diagnosis, in the first trimester as well as later in pregnancy, are the presence of the stomach, bowel or liver in the chest, and the shift of the mediastinum. Early diagnosis of this defect is essential. This will allow timely intervention and appropriate management, following extensive parental counseling.     

First trimester serum inhibin A in normal pregnant women

Objectives To establish reference ranges for maternal serum inhibin A in normal first trimester pregnant women. Materials and methods This was a cross-sectional study. We measured maternal serum inhibin A in normal pregnant women gestation age between 6⁺⁰ and 14⁺⁶ weeks using the enzyme-linked immunosorbent assay (ELISA) method. Maternal serum inhibin A was analyzed according to gestational ages (GA). Results Serum of 300 pregnancies was analyzed and the outcome demonstrated the median of maternal serum inhibin A according to gestational age. The levels of maternal serum inhibin A during the 6⁰–6⁺⁶ week of gestations are lowest when compared with other gestational age. The levels of maternal serum inhibin A during 9⁰–9⁺⁶ week of gestations are maximal. Maternal serum inhibin A then declined until 14 weeks of gestation. Conclusion Serum inhibin A can be measured during the first trimester of pregnancy by using the recent ELISA technique. Our reference ranges might be useful for further studies, such as prediction of adverse pregnancy outcome in threatened abortion.     

First trimester prediction of ischemic placental disease

Ischemic placental disease is characterized by one or more of the clinical manifestations of preeclampsia, fetal growth restriction, and/or placental abruption, resulting in indicated preterm delivery. Since over half of the indicated preterm deliveries are due to ischemic placental disease, accurate early prediction of the disease is of paramount importance in developing prevention strategies. This review article focuses on studies that have used the first trimester aneuploidy screening timing window to predict those patients who later develop ischemic placental disease. Emphasis was given to studies originating from the Fetal Medicine Foundation because of their uniformity in definitions and expertise of the personnel who performed the ultrasound screening exams.     

First trimester embryonic/fetal heart rate in normal pregnant women

Objective: To establish reference ranges for first trimester embryonic/fetal heart rate in normal pregnant women. Materials and methods: This was a cross-sectional study. We performed ultrasonogram in 319 normal pregnant women, gestation age between 6⁺⁰ and 14⁺⁶ weeks and measured embryonic/fetal heart rates using M-mode. The embryonic/fetal heart rates were analyzed according to gestational ages (GA). Results: Data of 319 pregnancies were analyzed and the outcome revealed the mean of fetal heart rate according to gestational age. The mean embryonic heart rates during the 6th–7th week of gestation are lower when compared with the other gestational ages. At the 8th week of gestation, the embryonic heart rate is maximum. Then the embryonic/fetal heart rate gradually decreased to 161 beats/min at the 14th week of gestation. The regression equation for embryonic/fetal heart rate (beat/min) [y] according to GA (day) [x] was y = −53.124 + 6.1333x + (−0.0407)x ² (r ² = 0.525; P < 0.001). Conclusion: Embryonic/fetal heart rates during the 6⁺⁰ and 14⁺⁶ week of gestation are related to GA. Our reference ranges may be useful for further studies such as for prediction of adverse pregnancy outcome in threatened abortion.     

First trimester three-dimensional ultrasound volumetry of the gestational sac

Summary. First trimester amniotic fluid is an ultrafiltrate of maternal plasma and constitutes the major component of gestational sac volume (GSV). We hypothesized that GSV, assessed by 3-dimensional (3-D) ultrasound volumetry, would reflect function of the early uteroplacental unit and therefore provide a basis for predicting pregnancy outcome. We tested this hypothesis in 38 pregnancies which had first trimester GSV measurements by two investigators thus allowing determination of interobserver variation. Gestational age (GA) was based on a careful history and conventional 2-dimensional ultrasound measurements. Serum for β-hCG, estradiol (E2) and progesterone (P) was obtained at the time of ultrasound examinations. ``Normal' outcome was defined as confirmation of a viable fetus. ``Abnormal outcome' was defined as either a ``blighted ovum' or embryonic demise. Statistical analysis was performed by Independent t-test and regression analysis. There were 31 ``normal' and 7 ``abnormal' pregnancies studied between 5 and 11 weeks gestation (mean ± SD 8.3 ± 1.3 weeks). GSV was significantly correlated to GA (r = 0.74, P < 0.001), higher than to β-hCG (r = 0.40, P = 0.034), E2 (r = 0.70, P < 0.001) and P (r = 0.21, P = 0.334), respectively. In the abnormal group 2/2 pregnancies with a twin sac had a GSV within 1 SD of the mean. 3/5 cases of missed abortions or blighted ovum had a GSV < 2 SD of the mean. The interobserver correlation was high (r = 0.99, P < 0.001). This is the first clinical study investigating the diagnostic use of 3-D ultrasound volumetry in first trimester pregnancy. Our results suggest that GSV volumetry has the potential to predict pregnancy survival into the mid to late trimester. Received: 26 February 1994 / Accepted: 27 April 1994     

First trimester diagnosis of a partial mole with the combined use of ultrasound and chorionic villous sampling

A patient with vaginal bleeding in the first trimester of pregnancy had a serum human chorionic gonadotropin (hCG) titer of 495,132 mlU/ml and an abdominal ultrasound examination revealed an intrauterine gestational sac without a fetal pole. Two and a half weeks later the hCG titer was 385,000 mlU/ml and a fetal pole was visualized. Transabdominal villous sampling was performed because of the suspicion of a partial mole. Histopathologic examination showed hydropic villi and chromosomal studies were consistent with triploidy. The diagnosis of partial mole in the first trimester of pregnancy was made and the pregnancy terminated.     

First trimester thyroid stimulating hormone as an independent risk factor for adverse pregnancy outcome

Purpose: Maternal thyroid gland dysfunction may adversely affect pregnancy outcome. We aimed to examine the association between subclinical thyroid dysfunction, both hypothyroidism and hyperthyroidism, to adverse pregnancy outcome.

Materials and methods: Retrospective cohort study of all women with an available first trimester thyroid function testing and known pregnancy outcome, categorized to subclinical hypothyroidism, or hyperthyroidism and evaluated for complication during gestation and delivery.

Results: Four thousand five hundred and four women were included in the final analysis – 3231 were euthyroid, 73 (1.6%) were categorized as subclinical hyperthyroidism and 1200 (26.6%) had subclinical hypothyroidism. Low thyroid-stimulating hormone (TSH) levels, i.e. subclinical hyperthyroidism, correlates with higher rates of placental abruption and extremely low birth weight, below 1500?g. Also, the risk for preterm delivery prior to 34 gestational weeks is higher among women with subclinical hypothyroidism, with greater risk among those with a higher TSH level. (OR 1.81, 95% CI 1.0–3.28 for TSH 2.5–4.0 mIU/L and OR 2.33, 95% CI 1.11–4.42 for those with TSH?>?4 4.0 mIU/L).

Conclusions: Subclinical hypothyroidism is associated with an increased risk for preterm delivery prior to 34 gestational weeks. Additionally, subclinical hyperthyroidism may also have a role in adverse pregnancy outcome – low birth weight and placental abruption – although this needs to be further explored.     

First trimester ultrasound estimation of gestational age in pregnancies conceived after in vitro fertilization

Objective

To evaluate BPD as an alternative to CRL for the estimation of gestation age in late first trimester pregnancies (between 9th and 13th gestational weeks), and to construct a first trimester reference chart of fetal BPD growth.

Study design

A prospective study that compared the gestational age estimated by BPD and CRL with the IVF gestational age in 167 first trimester pregnancies (127 singletons, 40 twins).

Results

Both BPD and CRL correlated well with the IVF gestational age (GA) from 9th to 13th gestation weeks. When comparing the difference of the GA (in days) estimated from the two respective ultrasound parameters versus the GA based on IVF (oocyte retrieval day +14 days), BPD estimations had a significantly lower mean difference than CRL (0.013 vs. 0.746; p < 0.01), as well as a lower standard deviation (2.414 vs. 3.008; p < 0.05). In addition, the 95% limits of agreement between the BPD estimated GA and IVF GA were also smaller than CRL estimated GA versus IVF GA (−4.719 to 4.745 vs. −5.149 to 6.641).

Conclusion

Biparietal diameter shares similar accuracy with crown rump length in late first trimester ultrasound estimation, with additional advantages of lower random measurement errors.     

Obstetrical and oncological outcomes of twin pregnancies with hydatidiform mole and coexisting fetus

ObjectiveTo evaluate the obstetrical and oncological progression of twin pregnancies with hydatidiform mole coexisting fetus (HMCF).Materials and methodsUsing a retrospective method based on patients from the Women's Hospital, Zhejiang University School of Medicine database between January 1990 and October 2020, 17 patients were histologically confirmed as having HMCF, and the patients' prenatal diagnosis, outcomes and development of gestational trophoblastic neoplasia (GTN) were reviewed.ResultsAmong these 17 cases, 11 (64.71%) cases were complete hydatidiform mole coexisting fetus (CHMCF), and 6 (35.29%) cases were partial hydatidiform mole coexisting fetus (PHMCF). The gestational age at diagnosis of CHMCF was significantly earlier than that of PHMCF [9 (8–24) vs. 18 (11–32) weeks, respectively, P < 0.05]. The live birth rate of PHMCF was slightly higher than that of CHMCF (33.33%; 18.18%), but this difference was not statistically significant. The overall rate of GTN incidence of HMCF was 47.06% (8/17), and the GTN rates of PHMCF and CHMCF were 33.33% (2/6) and 54.55% (6/11), respectively. There was no significant difference in the GTN rate between patients who chose to continue pregnancy and those who terminated pregnancy before 24 weeks of gestation. The GTN rate of patients with term delivery was not significantly higher than that of preterm delivery.ConclusionIn HMCF cases, the incidence rate of CHMCF was higher than that of PHMCF, and PHMCF is more difficult to diagnose in the early stage. Continuing pregnancy does not increase the risk of GTN compared to terminating pregnancy. In cases of HMCF, when the fetal karyotype is normal and maternal complications are controlled, it is safe to continue the pregnancy and extend it to term.     

Sublingual misoprostol for first trimester termination of pregnancy

Objectives

To compare blood loss, efficiency, and acceptability of repeated doses of sublingual misoprostol with the standard Tunisian regimen of mifepristone-misoprostol for first trimester medical abortion.

Methods

A prospective randomized trial of 252 healthy pregnant women requesting medical abortion in the first trimester (up to 56 days). Participants were randomized to receive 200 mg of oral mifepristone followed by 400 µg of oral misoprostol (group 1) or 800 µg of sublingual misoprostol repeated every 4 hours for up to a maximum of 3 doses (group 2). Primary outcome was blood loss assessed by decrease in hematocrit.

Results

Mean decrease in hematocrit at follow-up was significantly greater in group 1 than in group 2 (3.65% ± 1.18% vs 2.69% ± 1.89%, respectively; P = 0.02). There was no difference in efficiency rates between groups 1 and 2 (94.5% vs 92.1%; P = 0.7). Comparable proportions of women experiencing at least one adverse effect after misoprostol administration were reported in groups 1 and 2 (81.7% vs 79.4%; P = 0.75).

Conclusion

Compared with the most widely used regimen in Tunisia (mifepristone-misoprostol), sublingual misoprostol alone induces less blood loss (although not clinically significant); it is less expensive and offers reduced interval time to expulsion.     

First trimester maternal serum pregnancy-associated plasma protein-A is a predictive factor for early preterm delivery in normotensive pregnancies

Abstract

In this study, we investigated whether the concentrations of pregnancy-associated plasma protein-A (PAPP-A) or free β-hCG (fβhCG) in the first trimester can identify women at increased risk of subsequent preterm delivery in the absence of hypertensive disorders. Preterm and early preterm deliveries are defined as those deliveries before completing 37 and 34 weeks, respectively. A total of 868 women were enrolled into this study. According to the level of the markers, the patients were evaluated in three groups: 1 – maternal serum level ≤5th percentile, 2 – between 5th and 95th percentiles, 3 – ≥95th percentile. In the group of patients with a PAPP-A level ≤5th percentile [≤0.35 multiples of the median (MoM)], mean gestational age (GA) at delivery, mean birth weight and the number of the cases with early preterm delivery were significantly lower than the others. Mean level of PAPP-A was significantly lower in cases with early preterm than term deliveries (0.58?±?0.32 versus1.09?±?0.69; p?=?0.01). Maternal serum level of fβhCG did not show significant difference between these groups (0.84?±?0.45 versus 1.17?±?0.77; p?=?0.15). Low levels of maternal serum PAPP-A (≤0.35 MoM) (Odds ratio?=?7; 95% confidence interval 1.8–27.7; p?=?0.0048) significantly predicted early preterm delivery in normotensive pregnancies. Women with low levels of PAPP-A at first trimester have a higher risk of early preterm delivery even in the absence of hypertensive disorders.     

KiSS-1基因在孕早期绒毛组织中表达的初步研究

目的 研究早孕绒毛中KiSS—1基因mRNA的表达及定位，探讨其与滋养细胞浸润的关系。方法 采用半定量RT—PCR对100例(分为8个孕周组)正常早孕绒毛组织中KiSS—1mRNA的表达水平进行检测，并采用原位杂交方法进行其组织学定位。结果 在整个孕早期绒毛组织中均有KiSS—1基因表达，孕5周时表达最低，至9-12周达高峰。KiSS—1mRNA表达与妊娠天数呈直线正相关。原位杂交法检测结果提示孕早期KiSS—1mRNA在滋养细胞胞浆中的表达随孕周增加而增强。结论以KiSS—1基因在滋养细胞表达随孕周增长而增加，提示该基因在调控早孕滋养细胞的浸润行为中起重要的作用。     

First trimester fetal heart rate measurements by transvaginal ultrasound combined with pulsed Doppler: an evaluation of 1331 cases

The aim of this study is to present the cardiac activity measurements obtained from 1331 embryos and first trimester fetuses in whom the crown-rump length (CRL) measurements were between 2 and 60 mm, and to correlate the pattern of changes according to growth in body length, with an objective and reliable technique; transvaginal ultrasound combined with pulsed Doppler. Sonographic examinations were performed using a Combison 320-Kretz scanner with a 5–7.5 MHz vaginal probe with 240° scanning angle, combined with a 4.5 MHz pulsed Doppler. As the embryo grows, the mean heart rate increases sharply, from 106.8 ± 6.4 at a CRL of 2 mm to 178.3 ± 7.0 at a CRL of 23 mm; followed by a plateau and a slight decline thereafter. Statistical analysis of the body length and corresponding heart rate revealed a relationship with a correlation coefficient of 0.61 (P < 0.01), whereas relationship between CRL ≤ 23 and corresponding heart rate was striking with a correlation coefficient of 0.87 (P < 0.01).     

Haemophilus influenzae bacteremia following first trimester abortion

While genital tract infections with Haemophilus influenza (H. influenzae) are recognized with increasing frequency, this organism still remains an uncommon cause of maternal infection. The association of this pathogen with spontaneous abortion is extremely rare and has been described only in cases of midtrimester abortion. We report a case of H. influenzae bacteremia following first trimester spontaneous abortion and review the literature.     

Four-dimensional sonographic assessment of fetal movement in the late first trimester

Objective

To evaluate, using four-dimensional (4D) sonography, the frequency of fetal movements during the late first trimester of normal singleton pregnancies.

Methods

Singleton pregnancies were studied—using transvaginal 4D sonography—for 10 minutes at 10-11 and 12-13 weeks of gestation. The frequencies of 5 fetal movements (isolated arm, isolated leg, short trunk, long trunk, and jumping movements) were evaluated.

Results

In the 17 pregnancies studied, the most frequent fetal movements were isolated arm movement at 10-11 weeks and jumping movement at 12-13 weeks. There was a significant difference in the frequency of jumping movement between 10-11 and 12-13 weeks (P < 0.05).

Conclusion

The difference in frequency of 5 fetal movements at 10-11 and 12-13 weeks of gestation may be caused by early neuromuscular development and differentiation of the neuromuscular system.