Today we got the following letter summarizing our neonatology consult - a good summation of everything going on.... The day we discovered the heart defect they also mentioned the potential for club feet. Nobody's mentioned it since, so I guess I had just assumed once they got a better look, it was no longer a concern. Shows what happens when you assume... Sigh, one more thing to have to think about... I am also now paranoid about congenital toxoplasmosis. Feeling like we just can't catch a break. Newborn's are hard enough and now we're going to have a tiny newborn who will have trouble eating and breathing and who's going to be miserable because of foot braces. All I wanted was a happy, healthy baby... Very sad and feeling very sorry for myself at the moment.
Thank you for referring MOM for antenatal
neonatology consultation regarding the fetal diagnosis of atrioventricular
canal defect of her singleton pregnancy. We
have reviewed copies of the medical records provided. We had the pleasure of meeting MOM and her husband on 4/2/13 to discuss the anticipated perinatal plan of care for
her infant.
As your records indicate, MOM is a 37 year old G2P1
with a remote history of Behcet’s disease 12 yrs ago for which she is not on
medication, appendectomy in 2003 and cold induced asthma. Previous pregnancy was uncomplicated and delivered
at 39 weeks via a C/S due to failure of decent. Outcome was a healthy male infant who weighed
7 lbs. She is currently healthy and her EDD is 4/26/13.
The current pregnancy had been generally uneventful until a
prenatal ultrasound scan in October 2012 at GA 12 weeks done by Foxhall OB
revealed increased nuchal translucency with fetal growth initially within
normal limits. She was then counseled by
Genetics and advised on chorionic villous sampling to rule out the three common
syndromes: Trisomies 13, 18 and 21. All
tested negative with a normal karyotype. In addition to CVS, patient underwent
amniocentesis in January 2013. FISH
study was done to rule out 22q deletion, Noonan’s Syndrome, LEOPARD Syndrome,
Costello Syndrome and Cardio-Facio-Cutaneous Syndrome, all of which tested
negative. Repeat fetal US in early
December 2012 revealed a SGA fetus, small VSD/suspected AV canal defect and suspected
coarctation of the aorta with bilateral club feet. A repeat fetal ECHO done
late December confirmed initial findings of common AV valve and defect with
other cardiac structures being normal even though the study was limited.
Serial ECHOs were then done monthly and continued to confirm
complete AV canal defect, normal atrial and visceral sinus, normal
atrioventricular and ventricular arterial alignment, normal left and right
outflow tracts, normal sinus rhythm, normal aortic and ductal arches, no
significant AV valve regurgitation, excellent heart function and no evidence of
hydrops fetalis. Patient had weekly BPP performed and scored 8/8 consistently. Umbilical artery Dopplers were normal with
good end diastolic flow. It was
recommended at 33 weeks follow up to deliver infant at 37 weeks due to consistent
poor fetal weight gain with all measurements < 5th percentile. Fetal ultrasonography throughout revealed only
a concern for club feet and grade 1-2 placenta. Parents had already met with the Pediatric
Cardiologist at Children’s National Medical Center; last visit 4/3/13 with Drs.
Anita Krishnan and Mary Donofrio. An
ECHO was done with similar reported findings as previous and per Dr. Donofrio’s
note, she does not need to see the family again during the pregnancy. She does,
however, recommend a consultation to be called after delivery to confirm
diagnosis and then later to arrange outpatient follow up. The family also has met with Pediatric Cardiac
Surgery at CNMC and it is their understanding that corrective surgery would be at 4-6 months of age provided there is optimal
growth and no unforeseen complication like pulmonary hypertension necessitating
earlier surgery.
Family history reveals mom is of Northern European decent. Father of the baby is of Ashkenazi Jewish decent
but not previously tested for Tay Sachs disease. There are no familial
congenital anomalies/ syndromes that parents are aware of.
During our meeting today, we discussed the
baby's anticipated plan of care. Planned
management for
MOM and her infant include delivery at MedStar
Georgetown University Hospital. We
understand that an induction of labor date may potentially be designated as
early as the week of April 15th when she reaches 38 weeks of gestation. It is our understanding that MOM will
attempt a vaginal delivery unless an indication for a C-section arises. Neonatology team will expect to be notified at
time of delivery to attend delivery. We will assess the baby at time of birth,
and while we do not anticipate any need for extraordinary respiratory or
hemodynamic support at the time of birth, we will be prepared to provide
necessary support should the infant require any. After stabilization of the baby and bonding
with the parents if stable, we will be prepared to admit the baby to our
neonatal ICU for further evaluation.
We have discussed at length the common challenges faced by
small infants including hypothermia and need for temperature support in
incubator, hypoglycemia, possible need for intravenous nutrition, feeding
problems and jaundice. The placenta will
be sent for pathology. There is, however, no documentation of any TORCH
screening labs on mom as a potential cause for IUGR. After the baby is born, we
will revisit the need for such testing. Orthopedic
evaluation of the suspected club feet will be done after the baby is born.
Since the cardiac defect has been consistently stable with
excellent heart function and no other cardiac anomalies, it is not anticipated
that the baby would face immediate problems from this, although congestive
heart failure may develop after several days. The baby will be seen by and followed together
with Pediatric Cardiology after delivery to evaluate the need for further
intervention. We discussed the
possibility of congestive heart failure developing and the need for diuretics
and other medications, and discussed with the parents the criteria for
discharge home after the baby is born. Mom
wishes to breastfeed and is encouraged to do so.
The parents asked very relevant questions regarding
the plan of care for their baby and these were answered during the
consultation. MOM and her
husband were given a brief tour of the NICU at the conclusion of the meeting.
We look forward to working with you to ensure the best
possible outcome for this infant and family. If you have any questions, please do not
hesitate to contact us at
Sincerely,
