Determinants of first trimester combined test participation within the central region of the Netherlands.

OBJECTIVE: Our objective is to study the association between potentially influential determinants and first-trimester combined test (FCT) uptake rates in the central region of the Netherlands. METHODS: Data were extracted from the national prenatal screening database Peridos and the Netherlands Perinatal Registry and compared at the level of the health care provider. Univariable and multivariable linear regression analysis was used to determine the effect of determinants (maternal age, parity, socio-economic status (SES), mode of conception, ethnicity and urbanisation) on uptake. RESULTS: Prenatal screening data were available for 24 657 women and overall uptake rate was 25.7%. The strongest association with FCT uptake was found for advanced maternal age (ß 2.2; 95% CI [1.7, 2.8]). Grand multiparity had a significantly negative association with FCT uptake (ß -4.3; 95% CI [-5.9, -2.7]). Positive associations were found for very high urbanisation (ß 0.3; 95% CI [0.1, 0.4]) and high SES (ß 0.2; 95% CI [0.0, 0.3]). CONCLUSION: Advanced maternal age is strongly associated with participation in prenatal testing. The role of age related risk perception should be incorporated in future policy making to support women in informed and autonomous decision making. The negative association of grand multiparity and FCT might be religion based but requires further research. © 2015 John Wiley & Sons, Ltd.

Trends in the utilization of invasive prenatal diagnosis in The Netherlands during 2000-2009.

OBJECTIVE: To analyze trends in the number and type of invasive procedure, reasons for referral, maternal age and chromosomal abnormalities over a 10-year period and correlate the trends to changes in the national prenatal screening policy. METHODS: Data from 10 706 invasive prenatal procedures yielding a full karyotype, performed between 2000 and 2009 were extracted from the cytogenetic database in the central region of The Netherlands. Trends were analyzed. RESULTS: Over a 10-year period, the number of invasive procedures halved and the percentage of chromosomal abnormalities detected, increased from 5.5 to 9.4%. After 2007, however, 5.7% of karyotypes in women over 36 years were found to be abnormal, versus 18.1% in women below 36 years. In 2009, 71.5% of women over 36 are still referred for invasive prenatal diagnosis on the indication advanced maternal age. CONCLUSIONS: Changes in prenatal screening policy significantly increased referral after screening and improved the efficacy of invasive prenatal diagnosis. We show the continuing effect of the different policies applied in the past to women below and above the age of 36. To further improve efficacy of invasive prenatal diagnosis, first trimester combination screening should be actively offered to women of all ages.

Dynamic cervical length changes: preliminary observations from 30-minute transvaginal ultrasound recordings.

OBJECTIVE: The purpose of this study was to visualize and quantify dynamic changes in the cervix and to study factors influencing cervical length. METHODS: Eighteen women with a gestational age between 23 and 40 weeks were examined by transvaginal ultrasound during a continuous observation period of 30 minutes. RESULTS: All women delivered at >34 weeks of gestation, fourteen at term. The overall mean difference between the shortest and longest cervical length during the 30-minute recordings (cervical length variation) was 10.9 mm (range 1.6-26.7 mm). In the presence of fetal movements directed at the cervix, peristaltic movement of the bowel or contractions, cervical length variation was larger than in the absence of these conditions (mean 12.7 mm, range 5.2-26.7 mm and mean 6.1 mm, range 1.6-9.4 mm, respectively; p = 0.03). CONCLUSIONS: Dynamic changes in cervical length are present at early gestation and long before delivery and can be observed either spontaneously or associated with contractions, fetal movements or peristalsis. These conditions must be considered as pitfalls in cervical length measurement. In critical cases, such as early threatened preterm labor, increases in the frequency and duration of sonographic ultrasound measurements may be helpful to obtain a more reliable estimation of the cervical status.

Neurological outcome in isolated congenital heart block and hydrops fetalis.

OBJECTIVE: Isolated fetal heart block (HB), a condition associated with fetal hydrops, carries a high mortality rate and may result in neurodevelopmental sequelae. To the best of our knowledge, no data exist regarding the long-term outcome of such hydropic fetuses. We reviewed our experience with this condition to determine the neurodevelopmental outcome of prenatally diagnosed cases with isolated HB complicated by hydrops fetalis. METHODS: Neurodevelopmental assessment of 5 children presented prenatally with isolated HB associated with hydrops fetalis. RESULTS: During the last 18 years, 10 cases were detected prenatally with isolated HB and hydrops fetalis. 3 of the 10 fetuses died in utero, and 2 died postnatally, due to a dilated cardiomyopathy, at the age of 9 months and 4 years, respectively. Neurodevelopmental studies done on the 5 remaining children were normal. CONCLUSION: Long-term neurodevelopmental assessments of 5 surviving cases presented prenatally with isolated HB and hydrops fetalis are reassuring.

Methods of sonographic cervical length measurement in pregnancy: a review of the literature.

In this review we give an overview of the methods and pitfalls in cervical length measurements. We compared the different techniques and investigated factors that influence visualization of the cervix. The data in this overview may be used to establish guidelines in clinical practice.

Treatment of fetal tachycardia with sotalol: transplacental pharmacokinetics and pharmacodynamics.

OBJECTIVES: The aim of this study was to investigate the pharmacokinetics and pharmacodynamics of sotalol in the treatment of fetal tachycardia. BACKGROUND: Maternally administered, intrauterine therapy of fetal tachycardia is dependent on the transplacental passage of the antiarrhythmic agent. METHODS: In a prospective study of patients treated for fetal tachycardia with sotalol, concentrations of sotalol were determined in maternal and umbilical blood and in amniotic fluid, and the relationship between these concentrations and the occurrence of conversion to sinus rhythm was investigated. RESULTS: Eighteen fetal patients were studied, nine with atrial flutter and nine with supraventricular tachycardia. Fourteen were treated with sotalol; 13 converted to sinus rhythm, of whom 2 relapsed. There was one intrauterine death. Four patients were treated with sotalol and digoxin, of whom two were treated successfully. Mean birth weight was 3,266 g. The daily maternal sotalol dose was linearly related to the maternal plasma concentration. The mean fetal/maternal sotalol plasma concentration was 1.1 (range 0.67 to 2.87, SD 0.63), and the mean amniotic fluid/fetal blood ratio of sotalol was 3.2 (range 1.28 to 5.8, SD 1.4). The effectiveness of sotalol therapy could not be extrapolated from maternal blood levels. CONCLUSIONS: Sotalol is a potent antiarrhythmic agent in the treatment of fetal tachycardia. The placental transfer is excellent. Sotalol accumulates in amniotic fluid but not in the fetus itself. Therefore it seems that renal excretion in the fetus is efficient and greater than the oral absorption by fetal swallowing. The maternal blood level is not a reliable predictor of the chances of success of therapy. Sotalol is not associated with fetal growth restriction.

Drug treatment of fetal tachycardias.

The pharmacological treatment of fetal tachycardia (FT) has been described in various publications. We present a study reviewing the necessity for treatment of FT, the regimens of drugs used in the last two decades and their mode of administration. The absence of reliable predictors of fetal hydrops (FH) has led most centers to initiate treatment as soon as the diagnosis of FT has been established, although a small minority advocate nonintervention. As the primary form of pharmacological intervention, oral maternal transplacental therapy is generally preferred. Digoxin is the most common drug used to treat FT; however, effectiveness remains a point of discussion. After digoxin, sotalol seems to be the most promising agent, specifically in atrial flutter and nonhydropic supraventricular tachycardia (SVT). Flecainide is a very effective drug in the treatment of fetal SVT, although concerns about possible pro-arrhythmic effects have limited its use. Amiodarone has been described favorably, but is frequently excluded due to its poor tolerability. Verapamil is contraindicated as it may increase mortality. Conclusions on other less frequently used drugs cannot be drawn. In severely hydropic fetuses and/or therapy-resistant FT, direct fetal therapy is sometimes initiated. To minimize the number of invasive procedures, fetal intramuscular or intraperitoneal injections that provide a more sustained release are preferred. Based on these data we propose a drug protocol of sotalol 160 mg twice daily orally, increased to a maximum of 480 mg daily. Whenever sinus rhythm is not achieved, the addition of digoxin 0.25 mg three times daily is recommended, increased to a maximum of 0.5 mg three times daily. Only in SVT complicated by FH, either maternal digoxin 1 to 2mg IV in 24 hours, and subsequently 0.5 to 1 mg/day IV, or flecainide 200 to 400 mg/day orally is proposed. Initiating direct fetal therapy may follow failure of transplacental therapy.

[Group counselling for the second trimester ultrasound: can group counselling be an alternative for individual counselling?]. / Counseling bij het structureel echoscopisch onderzoek: is groepscounseling een alternatief voor individuele counseling?

OBJECTIVE: To compare group counselling to individual counselling with respect to the second trimester ultrasound. DESIGN: A prospective cohort study at two hospitals. METHOD: At one hospital, 100 pregnant women were counselled on the risks and benefits of the second trimester ultrasound in groups of up to 15 patients. Shortly before the ultrasound they were asked to fill out a questionnaire. Results were compared to 100 women who were counselled individually at another hospital. The primary outcome was the level of informed choice whether or not to undergo the ultrasound, defined as sufficient knowledge and a value-consistent decision. The secondary outcome measures were level of understanding of the second trimester ultrasound and the degree of satisfaction with the counselling. RESULTS: The resulting level of informed choice was 87.0% after group counselling compared to 79.4% after individual counselling (p = 0.47). The mean knowledge score was 8.8 for the women who attended group counselling; women who were individually counselled had a mean score of 7.4 (p < 0.001). Satisfaction with counselling was 7.0 for group counselling and 6.2 for individual counselling (p < 0.001). CONCLUSION: Although there was no statistically significant difference in the level of informed choice, group counselling was associated with higher post-counselling knowledge and satisfaction scores. Group counselling should therefore be considered as an alternative counselling method.

First trimester neurosonoembryology with automated follicle tracking: preliminary findings.

We evaluated the feasibility of demonstration of the embryonic cerebral ventricles using three dimensional transvaginal ultrasonography and software which has been developed to automatically calculate the volume of ovarian follicles after ovarian stimulation. In four out of six subsequent ultrasound examinations which were done for determination of gestational age from eight to ten gestational weeks, sufficient resolution was obtained to demonstrate the embryonic cerebral ventricles with automated volume calculation software, yielding striking images of a dramatic stage of embryonic development.

Idiopathic polyhydramnios and postnatal findings.

OBJECTIVE: Our objective was to investigate the outcome of neonates with idiopathic polyhydramnios in the first year after birth. METHODS: All patients diagnosed in the Erasmus Medical Centre Rotterdam and the University Medical Centre Utrecht between January 2000 and April 2005 with idiopathic polyhydramnios were studied. The outcome variables included mode of delivery, pre-term delivery, birth weight, macrosomia, large-for-gestational-age (weight > p90), neonatal or infant mortality and infant morbidity at 1 year after delivery. These were related to antenatal findings, including the onset of polyhydramnios and ultrasonographic evidence of macrosomia (estimated fetal weight > p90). RESULTS: Polyhydramnios was diagnosed at a mean gestational age (+/- s.d.) of 31.0 +/- 4.9 weeks. The mean gestational age at birth (+/- s.d.) was 37.9 +/- 3.7 weeks. Macrosomia at birth was present in 25.3% (22/88). Sixty-three of 88 infants were in good health 1 year after birth; 20 infants had an abnormality and 5 children had died. Macrosomia and detection of polyhydramnios in the third trimester was associated significantly with a good outcome. CONCLUSION: In neonates with idiopathic polyhydramnios, abnormalities were detected during the first year of life in 28.4%. Detection of polyhydramnios in the second trimester and low or normal birth weight are risk factors for associated abnormalities.

Isolated congenital atrioventricular block diagnosed in utero: natural history and outcome.

BACKGROUND: Isolated congenital atrioventricular block (CAVB) diagnosed in utero is associated with a high morbidity and mortality. Prognosis is especially poor when heart rate drops below 55 beats per minute (bpm) and when fetal hydrops develops. We describe the natural history and outcome of 24 infants with isolated CAVB diagnosed in utero, review the literature, and assess the risk factors that could predict outcome. METHODS: This was a retrospective multicenter study of 24 patients with isolated CAVB diagnosed in utero. RESULTS: CAVB was detected at a mean gestational age (GA) of 24.7 +/- 5.1 weeks. Ten fetuses initially presented with complete heart block. Low heart rate or incomplete heart block was the first documentation of bradyarrhythmia in the other 14 fetuses. In 11 of them, CAVB developed during pregnancy after a median time of 3 (range 1-16) weeks. Fetal hydrops developed in 10 of 24 (42%) fetuses at a mean GA of 27.6 +/- 5.1 weeks. Hydropic fetuses showed lower heart rates during pregnancy (47 +/- 10 bpm) than non-hydropic fetuses (57 +/- 10 bpm). There were three intrauterine deaths; all were hydropic and female. Nine viable females and 12 males were born at a mean GA of 37.1 +/- 6.1 weeks with an average birth weight of 3097 +/- 852 g. Fifteen CAVB patients required pacemaker (PM) intervention, 10 of them immediately after birth. Dilated cardiomyopathy (DCM) developed in three infants of whom two died of congestive heart failure, shortly after the diagnosis was made; one is still alive. Mortality before or after birth was 21%, and was associated with heart rates below 50 bpm and development of fetal hydrops. Poor outcome, defined as death, PM implantation, or development of DCM, occurred in 83% of cases and was associated with heart rates below 60 bpm during pregnancy. CONCLUSIONS: Isolated CAVB diagnosed in utero is associated with high morbidity and mortality. Patients who develop fetal hydrops show lower heart rates during pregnancy than patients who do not. A fetal heart rate below 50 bpm and development of fetal hydrops is associated with increased mortality. Rates below 60 bpm are associated with PM requirement and/or DCM.

Transient non-autoimmune fetal heart block.

OBJECTIVES: Fetal heart block is a rare and irreversible condition associated with structural heart defects or maternal autoantibodies (SS-A/Ro and SS-B/La) resulting in permanent damage of the atrioventricular (AV) node. This is the first report of 4 cases with a transient fetal heart block in structurally normal hearts without maternal autoantibodies. METHODS: A report on 4 patients seen within a 14-year period at one center with fetal heart block without intracardiac abnormalities or maternal autoantibodies. RESULTS: Three patients were referred to our center with a fetal bradycardia (heart rate 70-85 bpm), between 20 and 33 weeks' gestational age, and 1 for a 'triple' test at 16 weeks' gestational age. Echocardiography showed a complete heart block in 2 fetuses, and a second-degree AV block in the other 2. Heart block had completely resolved at all following visits. Postnatal ECG recordings showed normal sinus rhythm in all patients. Echocardiographic evaluation at presentation and follow-up showed normal cardiac anatomy, without signs of hydrops or cardiac decompensation in all patients. All mothers tested negative on SS-A/Ro and SS-B/La autoantibodies. CONCLUSIONS: Fetal heart block can occur in the absence of structural heart defects and maternal autoantibodies to SS-A/Ro and SS-B/La. The origin of such heart block is unknown, but its course seems benign: none of the patients ever showed ventricular heart rates <55 bpm, signs of congestive heart failure or fetal hydrops. Heart block resolved spontaneously in all patients.

Mild pyelectasis diagnosed by prenatal ultrasound is not a predictor of urinary tract morbidity in childhood.

OBJECTIVES: To determine whether children with prenatally diagnosed mild pyelectasis have more urinary tract morbidity during childhood than children without this finding. METHODS: Case-control study in children with pyelectasis (anteroposterior diameter of the fetal renal pelvis of 5-10 mm). A validated questionnaire was sent to the parents of 208 cases and 416 matched controls. RESULTS: The questionnaire was returned by 146 cases and 250 controls. There was a male predominance in the case group (p = < 0.0001). There was no difference in voiding habits or in prevalence of urinary tract infections (UTI). The prevalence of UTI was high: 11.6% in cases and 10.0% in controls. The only difference was a higher prevalence of constipation in the case group (p = 0.003). Postnatally, 41 children had an ultrasound examination and 16 were referred to a paediatrician or urologist: 3 had persisting pyelectasis, 3 had a recurrent UTI and 1 required surgery (a pyeloplasty). Four of the controls were referred to a paediatrician or urologist: 3 had recurrent UTI and 1 had urinary incontinence. CONCLUSION: Children with a mild fetal pyelectasis do not have more urinary tract morbidity during childhood than children without this finding. Therefore, there seems to be no need for additional investigation after birth.

Lactate in the foetal brain: detection and implications.

BACKGROUND AND METHODS: In six hydrocephalic foetuses (gestational age 29-38 wk), proton MR spectroscopy (1H-MRS) was performed in the basal ganglia for detection of lactate in vivo. RESULTS: Lactate was present in two foetal brains, absent in two and not detectable because of movement in two. CONCLUSION: With adequate immobilization of the foetus, 1H-MRS can be used for detection of foetal brain lactate.

Prenatal diagnosis of the fetus with hypoplastic left heart syndrome management and outcome.

OBJECTIVES: To review our 13-year experience with prenatally detected hypoplastic left heart syndrome (HLHS) of which management remains controversial. MATERIAL AND METHODS: Retrospective study of the management and outcome in all cases of HLHS diagnosed prenatally in a tertiary referral center for pediatric cardiology and cardiac surgery between January 1988 and July 2001. RESULTS: The diagnosis of HLHS was made in 32 fetuses. One mother had two pregnancies associated with HLHS. In 16 cases parents opted for termination of pregnancy and in five for compassionate care. Four fetuses died in utero, and seven patients received a palliative reconstructive Norwood procedure. In seven fetuses, associated anomalies were detected: three chromosomal and structural and four only structural. In six fetuses, other associated intracardiac anomalies were detected. Of seven infants operated, six had no associated anomalies and only one is alive at an age of 17 months. CONCLUSION: The low percentage of intention to treat among patients in our center (34%) is in accordance with the percentage found in another study from the UK (36.2%), but differs significantly from reported series across the Atlantic (67%). Prenatal diagnosis of the HLHS provides opportunities not only for getting patients in optimal preoperative condition when surgery is offered, but also for in-depth counseling of the parents on this severe malformation. A minority of parents faced with the difficult decision of possible termination of pregnancy, compassionate care or the Norwood strategy, choose surgical treatment which might be based on socioreligious differences and the interpretation of the long-term quality of life.