Maternal folic acid and multivitamin supplementation: International clinical evidence with considerations for the prevention of folate-sensitive birth defects.

More evidence is available for maternal intake, absorption, distribution, tissue specific concentrations, and pregnancy outcomes with folic acid (fortification/supplementation) during preconception - first trimester. This Quality Improvement prevention review used expert guidelines/opinions, systematic reviews, randomized control trials/controlled clinical trials, and observational case control/case series studies, published in English, from 1990 to August 2021. Optimization for an oral maternal folic acid supplementation is difficult because it relies on folic acid dose, type of folate supplement, bio-availability of the folate from foods, timing of supplementation initiation, maternal metabolism/genetic factors, and many other factors. There is continued use of high dose pre-food fortification 'RCT evidenced-based' folic acid supplementation for NTD recurrence pregnancy prevention. Innovation requires preconception and pregnancy use of 'carbon one nutrient' supplements (folic acid, vitamin B12, B6, choline), using the appropriate evidence, need to be considered. The consideration and adoption of directed personalized approaches for maternal complex risk could use serum folate testing for supplementation dosing choice. Routine daily folic acid dosing for low-risk women should consider a multivitamin with 0.4 mg of folic acid starting 3 months prior to conception until completion of breastfeeding. Routine folic acid dosing or preconception measurement of maternal serum folate (after 4-6 weeks of folate supplementation) could be considered for maternal complex risk group with genetic/medical/surgical co-morbidities. These new approaches for folic acid oral supplementation are required to optimize benefit (decreasing folate sensitive congenital anomalies; childhood morbidity) and minimizing potential maternal and childhood risk.

Using a family-based structure to detect the effects of genomic inbreeding on embryo viability in Holstein cattle.

Recent evidence has suggested that some of the decline in reproductive ability in dairy cattle has been caused by embryonic death. The current study compared expected genomic inbreeding from sire-dam mating pairs to genomic inbreeding from live progeny in an attempt to determine how embryonic inbreeding may affect fertility. A total of 11,484 Holstein cattle with 43,485 SNP markers and pedigree information were available for analysis. A total of 412 sire-dam-progeny trios in which all animals had reliable genotypes were discovered. After removal of trios because of parentage errors, 374 remained for analysis. Additionally, a total of 3,031 animals comprising 3,906 genotyped full-sibling pairs were available for comparison. Expected genomic inbreeding measures were calculated by predicting homozygosity independently per SNP (FPHE) in sire-dam mating pairs and by simulating progeny using phased haplotype information (FROHE and FPHE). Actual genomic inbreeding measures were calculated using the percent homozygosity of all SNP (FPH) and using runs of homozygosity (FROH). Average FPHE values (62.8±0.78%) were slightly lower than FPH (63.1±1.12%), when considering each SNP independently. After phasing haplotypes, FPHE (62.5±0.83%) was again slightly lower than FPH (62.7±1.16%), and FROHE (3.46±1.54%) was slightly lower than FROH (3.53±2.17%). Results suggest increases in expected genomic inbreeding do not explain a large effect on embryo viability at average levels of expected inbreeding. Higher variation in FROH values was present with sire-dam mating pairs exhibiting high FROHE, which may suggest high levels of genomic inbreeding are required for a noticeable effect on overall embryo viability. Genomic inbreeding between full siblings was also compared with moderate correlations (0.47-0.52) present. Overall, expected genomic inbreeding measures were calculated, but results did not suggest a large effect of expected inbreeding on embryo viability.

Costs and benefits of non-invasive fetal RhD determination.

OBJECTIVE: Non-invasive fetal Rhesus (Rh) D genotyping, using cell-free fetal DNA (cffDNA) in the maternal blood, allows targeted antenatal anti-RhD prophylaxis in unsensitized RhD-negative pregnant women. The purpose of this study was to determine the cost and benefit of this approach as compared to routine antenatal anti-RhD prophylaxis for all unsensitized RhD-negative pregnant women, as is the current policy in the province of Alberta, Canada. METHODS: This study was a decision analysis based on a theoretical population representing the total number of pregnancies in Alberta over a 1-year period (n = 69 286). A decision tree was created that outlined targeted prophylaxis for unsensitized RhD-negative pregnant women screened for cffDNA (targeted group) vs routine prophylaxis for all unsensitized RhD-negative pregnant women (routine group). Probabilities at each decision point and costs associated with each resource were calculated from local clinical and administrative data. Outcomes measured were cost, number of women sensitized and doses of Rh immunoglobulin (RhIG) administered. RESULTS: The estimated cost per pregnancy for the routine group was 71.43 compared with 67.20 Canadian dollars in the targeted group. The sensitization rates per RhD-negative pregnancy were equal, at 0.0012, for the current and targeted programs. Implementing targeted antenatal anti-RhD prophylaxis would save 4072 doses (20.1%) of RhIG over a 1-year period in Alberta when compared to the current program. CONCLUSIONS: These data support the feasibility of a targeted antenatal anti-RhD prophylaxis program, at a lower cost than that of the existing routine prophylaxis program, with no increased risk of sensitization.

Methemoglobin levels in umbilical cord blood of women with intrauterine growth restriction and preeclampsia.

OBJECTIVE: To measure nitric oxide (NO) levels, as assessed by methemoglobin (MetHb), in the umbilical cord arterial blood of women with preeclampsia (PE), normotensive pregnancies with intrauterine growth restriction (IUGR, <10th percentile for birth weight) and normotensive pregnancies with appropriate for gestational age (AGA) infants. DESIGN/METHODS: Prospective analysis of MetHb levels in umbilical arterial blood of pregnancies with PE, normotensive IUGR and normotensive AGA infants using spectrophotometry. Exclusion criteria included cigarette smoke exposure, hemolytic disorders, chronic hypertension, any significant medical illness and medications affecting NO or MetHb levels. RESULTS: There were 42 women in the PE, 42 in the AGA and 37 in the IUGR group. Maternal age, mode of delivery, gravidity, parity and infant gender were similar in the three groups. MetHb levels were significantly lower in the IUGR group compared to the AGA group (p < 0.01). MetHb levels, while higher in the PE group compared to the AGA group, did not reach statistical significance. CONCLUSION: Our data suggests that NO may play a key role in the pathogenesis of IUGR. We also, for the first time, provide information on umbilical arterial MetHb levels in PE, normotensive IUGR and normotensive AGA pregnancies.

Spatially resolved single photon detection with a quantum sensor array.

We propose a method of resolving a spatially coherent signal, which contains on average just a single photon, against the background of local noise at the same frequency. The method is based on detecting the signal simultaneously in several points more than a wavelength apart through the entangling interaction of the incoming photon with the quantum metamaterial sensor array. The interaction produces the spatially correlated quantum state of the sensor array, characterised by a collective observable (e.g., total magnetic moment), which is read out using a quantum nondemolition measurement. We show that the effects of local noise (e.g., fluctuations affecting the elements of the array) are suppressed relative to the signal from the spatially coherent field of the incoming photon as , where N is the number of array elements. The realisation of this approach in the microwave range would be especially useful and is within the reach of current experimental techniques.

Outcomes in a cohort of patients with Stage I twin-to-twin transfusion syndrome.

OBJECTIVE: To determine pregnancy outcomes of patients who present with Stage I twin-to-twin transfusion syndrome (TTTS). METHODS: This was a retrospective review of all patients with TTTS referred to our institution between January 2005 and December 2006. Quintero criteria were used for staging. Laser ablation was not offered to patients with Stage I disease. RESULTS: A total of 155 twin pregnancies were evaluated for TTTS during this period. Forty-two met the criteria for Stage I and were included in the analysis. The overall survival to discharge was 82%. The mean gestational age at the time of consultation was 20.9 +/- 0.4 weeks. A total of 23 cases (54.8%) underwent amnioreduction. Progression of TTTS requiring invasive therapy occurred in four cases. The mean gestational age at delivery was 32.5 +/- 0.62 weeks. When divided according to use of amnioreduction, there were no statistically significant differences between the groups for gestational age at delivery or for birth weight. Those Stage I cases with a CHOP cardiovascular score of 5 or higher delivered almost 3 weeks earlier than the remainder of the cohort. CONCLUSIONS: Progression of TTTS beyond Stage I occurred in only 9.5% of the cohort. Mean gestational age at delivery and survival to discharge did not differ between Stage I patients and those treated with placental laser ablation for more advanced stages of TTTS.

Impact of altered loading conditions on ventricular performance in fetuses with congenital cystic adenomatoid malformation and twin-twin transfusion syndrome.

OBJECTIVES: In the fetus with a structurally normal heart, two conditions--giant chest mass, such as congenital cystic adenomatoid malformation (CCAM), and twin-twin transfusion syndrome (TTTS)--alter ventricular loading conditions and may result in cardiovascular compromise. The aim of this study was to elucidate the mechanism of cardiovascular dysfunction by comparing geometry-independent, Doppler flow-derived measures of ventricular performance in fetuses with altered loading conditions vs. those in normal fetuses. METHODS: Doppler flow-derived measures of myocardial performance index (MPI) as described by Tei, ventricular ejection force as described by Isaaz, and combined cardiac output (CCO) were obtained by echocardiography in fetuses with a normal cardiovascular system (n = 76) or CCAM (n = 36) and fetal partners with TTTS (n = 22). RESULTS: In the CCAM group, systolic performance as evidenced by the ejection forces was preserved, right ventricular (RV) MPI was increased and CCO diminished, suggesting diastolic dysfunction and poor filling secondary to cardiac compression and a tamponade effect. In TTTS, recipient twins exhibited greater left ventricular (LV) ejection forces and higher CCO than donor twins, and had abnormal RV and LV MPI, reflecting increased preload, preserved left systolic performance, but diastolic dysfunction. Donor twins had diminished ejection forces and CCO in comparison with normal controls and recipient partners, reflecting hypovolemia. CONCLUSIONS: In both CCAM and recipient twins of the TTTS, diastolic dysfunction plays a significant role in the pathophysiology of each disorder and precedes changes in systolic performance. Measures of ventricular performance can help elucidate poorly understood mechanisms of cardiovascular compromise in the developing fetus.

Amniocentesis for twin pregnancies: is alpha-fetoprotein useful in confirming that the two sacs were sampled?

OBJECTIVE: To assess if amniotic fluid alpha-fetoprotein (AFAFP) could be useful to determine if both sacs are sampled during an amniocentesis for twin pregnancies. METHOD: We reviewed all amniocenteses performed on twin pregnancies over a 5-year period. Inclusion criteria were restricted to pregnancies where both karyotypes and AFAFP were available on each fetus. Pregnancies complicated by fetal anomalies were excluded. The following information was obtained: maternal age, gestational age at the procedure, karyotypes, AFAFP values, pregnancy and neonatal outcome. Placental pathology reports were used to confirm chorionicity. Analysis was performed to evaluate the impact of the fetal gender and chorionicity on the AFAFP values. RESULTS: 260 pregnancies were reviewed. Mean maternal age was 36.9 years (33.6, 40.1). Gestational age at the time of the procedure was 16.2 weeks (14.5, 17.9). Complications included 1.8% of misdiagnosis (discrepancy between karyotype and gender). The difference of AFAFP values between the two fetuses was statistically larger in dichorionic pregnancies than in monochorionic gestations. Fetal gender had no influence on the AFAFP. CONCLUSION: Amniocentesis in twin pregnancies is associated with a 1.8% risk of misdiagnosis. AFAFP can help to assess the chorionicity of a twin pregnancy. When the difference between the two values is <0.2 MoM and the chorionicity was thought to be dichorionic and the two karyotypes are similar, then failure to sample both sacs should be suspected.

In vitro production of bovine embryos using sex-sorted sperm.

The objective of this study was to investigate the suitability of sex-sorted sperm for producing viable in vitro embryos for subsequent transfer into recipient cows and heifers on commercial dairy farms. From August 2002 to June 2003, ovaries were collected from 104 producer-nominated Holstein donor cows on seven Wisconsin farms via colpotomy or at slaughter. Oocytes (N=3526) were aspirated from these ovaries, fertilized 22+/-0.2h later, and cultured to the morula or blastocyst stage. The fluorescence-activated cell sorting ("Beltsville") approach was used to produce (primarily) X-bearing sperm from the ejaculates of three young Holstein sires, and 365 transferable embryos were produced. On average, 3.6+/-0.3 (means+/-S.E.M.) transferable embryos were produced per donor, including 1.4+/-0.2 (Grade 1), 1.5+/-0.2 (Grade 2), and 0.7+/-0.1 (Grade 3) embryos. Number of usable oocytes per donor (33.9+/-3.3) and percent cleavage (51.1+/-1.9) were significant predictors of the number of blastocysts that developed. Mean conception rates for the resulting in vitro embryos were 34.2+/-1.6% in yearling heifer recipients and 18.2+/-0.7% in lactating cow recipients. Additional oocytes (N=3312) from ovaries of anonymous donors (N unknown) collected at a commercial abattoir were fertilized using unsorted sperm, and the percentage of these that developed to blastocyst stage (20.1+/-2.9) was greater (P<0.05) than the corresponding percentage (12.2+/-2.3) achieved with sex-sorted sperm using oocytes (N=1577) from the same source. In summary, we inferred that in vitro embryo production may be a promising application of sex-sorted sperm in dairy cattle breeding, but that the biological causes of impaired embryo development in vitro and compromised conception rates of transferred embryos should be further investigated.

A randomized trial of amnioreduction versus septostomy in the treatment of twin-twin transfusion syndrome.

OBJECTIVE: Left untreated, severe twin-to-twin transfusion syndrome (TTTS) presenting in the early second trimester of pregnancy is often associated with significant maternal morbidity and almost universal perinatal loss. Removal of excessive amounts of amniotic fluid through serial amniocenteses (amnioreduction) has been the mainstay of therapy. We sought to compare amnioreduction to intentional perforation of the intervening twin membrane (septostomy). STUDY DESIGN: Pregnant women with TTTS before 24 weeks' gestation were randomly assigned to serial amnioreduction or septostomy. A single puncture technique under ultrasound guidance was used for the septostomy. The primary outcome measure was survival to neonatal discharge, and was assessed based on the number of pregnancies or the number of fetuses as appropriate. RESULTS: The study was terminated at the planned interim analysis stage after 73 women were enrolled. This was because the rate of survival of at least 1 infant was similar in the amnioreduction group compared to the septostomy group (78% vs 80% of pregnancies, respectively; RR=0.94, 95%CI 0.55-1.61; P=.82). Patient undergoing septostomy were more likely to require a single procedure for treatment (64% vs 46%; P=.04). CONCLUSION: Although overall perinatal survival is not enhanced, septostomy offers the advantage of often requiring a single procedure compared to serial amnioreduction in the treatment of severe twin-to-twin transfusion syndrome.

In vitro production of Holstein embryos using sex-sorted sperm and oocytes from selected cull cows.

The objective of this study was to explore potential synergies between sex-sorted sperm and in vitro embryo production for generating replacement heifers on commercial dairy farms. Selected involuntary cull cows (i.e., genetically suitable cows that were culled due to injury, illness, or infertility) from 7 Wisconsin farms were used as donors, and ovaries were collected via colpotomy or at the time of slaughter. Oocytes were aspirated, fertilized in vitro with sex-sorted sperm 22 +/- 0.2 h later, cultured, matured for 7 to 8 d, and transferred into recipient cows and heifers on the farms from which the cull cows originated. From August 2002 to June 2003, ovaries were recovered from 104 Holstein donors. Sex-sorted sperm from 3 Holstein sires (obtained via fluorescence-activated cell sorting) were used. A total of 365 transferable embryos were produced, an average of 3.6 +/- 0.3 per donor. However, due to limited availability of recipient animals, only 272 (fresh) embryos were transferred, an average of 2.6 +/- 0.3 per donor. A random subset of recipients received an injection (i.m.) of GnRH (100 microg) at the time of embryo transfer. When lactating cows were used as recipients, mean conception rates were 16.3% for recipients identified based on standing estrus and 20.0% for recipients synchronized using a timed breeding program (Ovsynch). Conception rates for in vitro-produced embryos were lower than corresponding conception rates for control cows inseminated using unsorted semen. When virgin heifers were used as embryo recipients (all standing estrus), the mean conception rate was 34.2%. The following effects significantly impacted conception rate: farm, season, recipient group (cow vs. heifer), sire of embryo, and GnRH injection. Of 40 full-term calves generated using sex-sorted semen, 37 were female. These results suggest that "low-cost" in vitro embryo production using cull cows as donors, in conjunction with sex-sorted sperm, could be an effective tool in dairy cattle breeding programs, but only if conception rates can be improved.

Fetal head biometry following in-utero repair of myelomeningocele.

OBJECTIVE: To evaluate the impact of prenatal myelomeningocele repair on fetal head biometry. METHODS: Fifty fetuses underwent open fetal myelomeningocele repair at our institution between January 1998 and July 2002. All had serial head circumference (HC) and lateral ventricular diameter (VD) measurements taken preoperatively and weekly for 8 weeks after repair. Cortical index (CI) was defined as HC/VD. Measurements were compared with gestational age-matched values from nomograms. One-sample t-test, ANOVA and repeated measures analysis were used to assess HC, VD and CI after fetal repair. RESULTS: Preoperatively, the HC in fetuses with myelomeningocele was smaller than control values (186.4 vs. 198.8 mm, P = 0.0004). Eight weeks' postoperatively this difference had resolved (293 vs. 301.6 mm, P = 0.76). The mean increase in CI after repair was 20% (P = 0.02) compared with the predicted 51% in normal cases. The average increase in VD was 3.9 mm (38.8%, P < 0.001). CONCLUSIONS: Mid-gestational repair of myelomeningocele alters fetal head growth. Increased CI suggests HC changes are not due to ventriculomegaly alone.

Risk of mosaicism and uniparental disomy associated with the prenatal diagnosis of a non-homologous Robertsonian translocation carrier.

OBJECTIVE: To estimate the fetal risk of uniparental disomy (UPD) associated with the presence of a Robertsonian translocation (RT) in a parent or in the fetus, to determine whether it is clinically indicated to test these pregnancies for UPD. METHODS: Retrospective analysis of our Centre's experience in testing prenatal specimens for UPD in cases of known familial RTs or fortuitous RT finding. In addition, all reports dealing with prenatal UPD testing in similar populations obtained from PUBMED and the 1995-2001 American Society of Human Genetics Meeting's abstracts were assessed. RESULTS: No case of UPD 14 or 15 was found among the 51 tests performed at our Centre. Meta-analysis identified one case of UPD13 out of 687 UPD studies, conducted in 400 prenatal diagnoses. The 95% confidence interval of the risk of UPD in the population studied (1 in 738) is 0.02-0.76%. In one report, trisomy mosaicism for one of the chromosomes involved in the translocation was found in 3 cases out of 169 (95% confidence interval: 0.1-3 %). CONCLUSIONS: Fetuses carrying a Robertsonian translocation have a risk of UPD of 0.02-0.76% (95% CI). In this population, trisomy mosaicism is more frequent than UPD. This finding justifies the study of additional colonies in all cases of prenatally diagnosed RT.

Late first-trimester invasive prenatal diagnosis: results of an international randomized trial.

OBJECTIVE: To assess, in a randomized trial, the safety and accuracy of amniocentesis and transabdominal chorionic villus sampling (CVS) performed at 11-14 weeks of gestation, given that this time frame is increasingly relevant to early trisomy screening. METHODS: We compared amniocentesis with CVS from 77 to 104 days of gestation in a randomized trial in a predominantly advanced maternal age population. Before randomization, the feasibility of both procedures was confirmed by ultrasonography, and experienced operators performed sampling under ultrasound guidance; conventional cytogenetic analysis was employed. The primary outcome measure was a composite of fetal loss plus preterm delivery before 28 weeks of gestation in cytogenetically normal pregnancies. RESULTS: We randomized 3,775 women into 2 groups (1,914 to CVS; 1,861 to amniocentesis), which were comparable at baseline. More than 99.6% had the assigned procedure, and 99.9% were followed through delivery. In contrast to previous thinking, in the cytogenetically normal cohort (n = 3,698), no difference in primary study outcome was observed: 2.1% (95% confidence interval 1.5, 2.8) for CVS and 2.3% (95% confidence interval, 1.7, 3.1) for amniocentesis. However, spontaneous losses before 20 weeks and procedure-related, indicated terminations combined were increased in the amniocentesis group (P =.07, relative risk 1.74). We found a 4-fold increase in the rate of talipes equinovarus after amniocentesis (P =.02) overall and in week 13 (P =.03, relative risk = 4.65), but data were insufficient to determine this risk in week 14. CONCLUSION: Amniocentesis at 13 weeks carries a significantly increased risk of talipes equinovarus compared with CVS and also suggests an increase in early, unintended pregnancy loss. LEVEL OF EVIDENCE: I

The correlation between airborne methicillin-resistant Staphylococcus aureus with the presence of MRSA colonized patients in a general intensive care unit.

Air sampling directly onto a methicillin-resistant Staphylococcus aureus (MRSA) selective agar was performed at six locations three times weekly over a period of 32 weeks in a new, initially MRSA-free Intensive Care Unit to examine if MRSA is present in air sample cultures and, if so, whether it is affected by the number of MRSA colonized patients present. A total of 480 air samples were collected on 80 days. A total of 39/480 (8.1%) samples were found to be MRSA positive of which 24/160 (15%) positive air samples were from the single rooms, where MRSA colonised patients were isolated, and 15/320 (4.7%) were from the open bed areas. A significant correlation was found between the daily number of MRSA colonized or infected patients in the Unit and the daily number of MRSA positive air samples cultures obtained (r2=0.128; P<0.005). The frequency of positive cultures was significantly higher in the single rooms than in the open bed areas (relative risk=3.2; P<0.001). The results from one of the single rooms showed a strong correlation between the presence of MRSA patients and MRSA positive air samples (relative risk=11.4; P<0. 005). Our findings demonstrate that the presence of airborne MRSA in our unit is strongly related to the presence and number of MRSA colonized or infected patients in the Unit.

Screening for fetal well-being in a high-risk pregnant population comparing the nonstress test with umbilical artery Doppler velocimetry: a randomized controlled clinical trial.

OBJECTIVE: The purpose of this study was to evaluate the ability of two different modes of antepartum fetal testing to screen for the presence of peripartum morbidity, as measured by the cesarean delivery rate for fetal distress in labor. STUDY DESIGN: Over a 36-month period, all patients who were referred to the Fetal Assessment Unit at BC Women's Hospital because of a perceived increased fetal antepartum risk at a gestational age of > or =32 weeks of gestation were approached to participate in this study. Fetal surveillance of these women was allocated randomly to either umbilical artery Doppler ultrasound testing or nonstress testing as a screening test for fetal well-being. If either the umbilical artery Doppler testing or the nonstress testing was normal, patients were screened subsequently with the same technique, according to study protocol. When the Doppler study showed a systolic/diastolic ratio of >90th percentile or the nonstress testing was equivocal (ie, variable decelerations), an amniotic fluid index was performed, as an additional screening test. When the amniotic fluid index was abnormal (<5th percentile), induction and delivery were recommended. When the Doppler study showed absent or reversed diastolic blood flow or when the nonstress test result was abnormal, induction and delivery were recommended to the attending physician. Statistical comparisons between groups were performed with an unpaired t test for normally distributed continuous variables and chi(2) test for categoric variables. RESULTS: One thousand three hundred sixty patients were assigned randomly to groups in the study; 16 patients were lost to follow up. Six hundred forty-nine patients received Doppler testing and 691 received nonstress testing. The mean number of visits for the Doppler test and nonstress test groups was two versus two, respectively. The major indications for fetal assessment included postdates (43%), decreased fetal movement (22%), diabetes mellitus (11%), hypertension (10%), and intrauterine growth restriction (7%). The incidence of cesarean delivery for fetal distress was significantly lower in the Doppler group compared with the nonstress testing group (30 [4.6%] vs 60 [8.7%], respectively; P <.006). The greatest impact on the reduction in cesarean deliveries for fetal distress was seen in the subgroups in which the indication for testing was hypertension and suspected intrauterine growth restriction. CONCLUSION: Umbilical artery Doppler as a screening test for fetal well-being in a high-risk population was associated with a decreased incidence of cesarean delivery for fetal distress compared to the nonstress testing, with no increase in neonatal morbidity.

Prenatally diagnosed microcephaly: a review of etiologies.

OBJECTIVE: To determine the incidence and etiology of prenatally diagnosed microcephaly. METHODS: Retrospective review of 10 years at a tertiary obstetrical hospital. The study population consisted of 21 infants with confirmed prenatal and postnatal microcephaly. RESULTS: There were 8 different definite/probable etiologies identified (viral, monochorionic twinning, genetic syndrome, neural tube defect, abnormal karyotype, hypoxic insult, constitutional). CONCLUSIONS: Retrospective study indicates the commonest etiologies for prenatal microcephaly are in utero infection, monochorionic twin insult, rare genetic syndrome and chromosomal anomalies.

Outcome of the prenatally diagnosed congenital cystic adenomatoid lung malformation: a Canadian experience.

UNLABELLED: Congenital cystic adenomatoid malformation of the lung (CCAM) is diagnosed by prenatal ultrasonography with an increasing frequency but controversy persists as to its prognosis and prenatal management. METHOD: A multi-institutional study of cases of CCAM diagnosed antenatally identified by ultrasonographers and by a review of hospital charts. RESULTS: We obtained 48 cases from five centers. We estimate the incidence of CCAM at 1:25,000 to 1:35,000 pregnancies. The incidence of voluntary abortions was 15% (7/48), of spontaneous abortions 2% (1/41) and of postnatal death 10% (4/40). One of the postnatal deaths was from trisomy 18. Of the 7 aborted fetuses, 2 had multiple malformations and 1 had severe hydrops and oligohydramnios; the other 4 had a large mass with mediastinal displacement but without hydrops. When pregnancy was allowed to continue, 56% of the lesions regressed spontaneously, even though one third of these had initial progression. In 17 cases (42%) the mediastinal shift corrected itself, sometimes by simple growth of the fetus but most often by a decrease in the size of the lung mass. In 1 fetus, repeated needle decompressions followed by double-pigtail catheter drainage of large cysts allowed regression of hydrops. Despite this, neonatal death occurred from pulmonary hypoplasia. CONCLUSION: CCAM can lead to fetal or neonatal demise from hydrops, lung hypoplasia, prematurity or severe associated malformations, but has a good prognosis in the majority of cases.