Medical Case Study: Down Syndrome

G4 P3003 (4 Gestations, 3 Full Term, 0 Preterm, 0 Miscarriages, 3 Currently Living); 3 Spontaneous Vaginal Deliveries; Last birth was 7 years ago by SVD, weighed 4000 grams; No previous obstetrical complications or morbidity; No past medical history; No past surgical history; No prior antenatal care

The National Association for Down Syndrome is governed much like a traditional corporation, with a board of directors and staff members, although it is a nonprofit. "NADS is the oldest organization in the country serving individuals with Down syndrome and their families. It was founded in Chicago in 1961 by parents who chose to go against medical advice and raised their children with Down syndrome at home" (About NADS, 2012, NADS). From its inception, NADS was designed to provide support for parents of children with Down syndrome and their offspring. Its key stakeholders are parents and children, and it strives to educate the larger community about the disorder and to cultivate community resources to better enable parents to raise their children in a supportive and loving environment that caters to the children's special needs. Information-gathering and dissemination, support, and advocacy on a national and local level are all part of the organizations' mission.

Because her initial pregnancy was preterm based on PPROM, she would be a candidate for 17-OHP and this was discussed and would recommend that this start at around 16-18 weeks gestation. In addition, because of her prior history of cesarean deliveries as well as her HIV status the plan will be to undergo a repeat cesarean in this pregnancy at around 38 weeks gestation and she does have good dates. She does have a follow-up appointment in your office in 3-4 weeks.

Brittany is a 22yo, G2 P1001, who was seen for an ultrasound evaluation and FTS. The patient states that she has a history of hypothyroidism but believes that she was tested in this pregnancy and told that her values were normal. I do not have copies of that lab work but would recommend that this be followed as her pregnancy progresses. She also reportedly has some issues with anxiety and IBS but is stable not on medication. She has a previous cesarean delivery with her last delivery but is uncertain about a VBAC. Lastly, she states that her main issue in this pregnancy is that when she wakes up in the morning after sleeping her arms and hands are numb or asleep and this did not occur in her previous pregnancy.

Keia is a 31yo, G2 P0100, who is currently 9 weeks 6 days as dated by a 6-week scan that was off from her LMP. She has a history of an IUFD at 29 weeks. She reports that she had decreased fetal movement prior to coming in and there being no fetal heart tones on examination, but other than that there were no other significant precipitating events. She did have an increased risk for Down syndrome at 1:140 but per the old reports all of her analytes were within normal limits. At the time of delivery, the baby did appear to be appropriate weight and there were no obvious causes at the time of delivery. She reports that she had chromosomes performed after and the chromosomes were negative. She also thinks she had a full autopsy that was unremarkable. She did have a work-up for clotting disorders due to the history of loss and according to the chart everything is relatively within normal limits except for MTHFR which was heterozygous for C677T and A1298C. I did not see beta-2 glycoprotein or antithrombin III. Because of the relatively normal work-up she is on a baby aspirin and Metanx. She is here today to discuss her history and plans for this pregnancy.

She is without complaints. She has not noted any increase in preterm labor. No signs/symptoms or change in pelvic pressure. She is compliant with bedrest and has help taking care of her son. She is otherwise aware that she should discontinue Motrin next week and is aware of the signs/symptoms that we are monitoring. The placental cord insertion does appear marginal as noted on prior ultrasound and we are following monthly growth. She is aware that after surveillance of cervical length which will the last one we would anticipate would be next week at 32 weeks and after that we would still recommend monthly evaluation of fetal growth. Preterm labor precautions were reviewed. She is scheduled to return in one

Jeannie is a 25yo, G1 P0, who was seen for a follow-up assessment due to the identification of trisomy 18 based on noninvasive prenatal testing (NIPT). On today’s assessment, she overall has no complaints and believes that she has begun to feel some minimal fetal movement. She does have asthma but is stable with inhalers.

Kecia is a 25yo, G3 P2002, who was seen for an ultrasound evaluation to evaluate the fetal abdomen. She overall denies any major medical disorders. She reportedly had a seizure related to an anesthesia event in a prior surgery but denies any history of epilepsy and therefore is not on an anticonvulsant. She has 2 previous term uncomplicated vaginal deliveries in 2012 and 2016. On today’s evaluation, overall, she has no obstetrical complaints and has positive fetal movement.

Rachel is a 32yo, G7 P3033, who is currently 18 weeks 1 day. She is dated by LMP. She was seen previously for a dating scan and declined aneuploidy screening. She has 3 prior full-term deliveries. She had preterm labor with her last pregnancy but ultimately delivered at term. While she has miscarriages, she does not have 3 in a row. She is here today for an anatomic survey.

This particular case study involves a 29 year old obstetric patient who presented to the labor and delivery unit at 33 weeks gestation with complaints of abdominal pain for the past three days that had become more severe and absence of fetal movement noted since the previous evening. Her obstetric history revealed she has one living child and has had one previous miscarriage at ten weeks

The patient is an 18 year old Spanish female who came to the unit on 11/31/2016 at 23:10 complaining of cramping and she had thought that her water had broken. Her pain was a 4 on a scale of 0-10 in her abdomen described as cramping. Upon examination she was dilated to 3cm, 80% effaced and the position of the baby was -2 and vertex. Her membranes remained intact. Her estimated due date was 10/28/2016. This is her first pregnancy. She has no history of abortion or miscarriage. She has had her flu vaccine and tdap vaccine in October, 2016. She has never smoked or done illegal drugs. She is negative for group b strep, hepatitis, HIV, and syphilis, gonorrhea, and chlamydia. She is rubella immune. There is a language barrier between the patient and the staff. The patient and her family only speak Spanish and only knew very little

Yanari is a 39yo, G6 P5005, who was seen for an ultrasound evaluation and consultation for AMA. The patient is currently 39 and will be 40 at the time of her EDD. This will be discussed further below. She does have a history of gastroesophageal reflux disease as well as a gastric ulcer but is asymptomatic in that regard at the present time. She has had 5 previous term deliveries, the first 3 being in Mexico and the last 2 in North Carolina; all by cesarean delivery. She desires a tubal ligation. On today’s assessment, she has no complaints and has positive fetal movement.

Brittany is a 22yo, G5 P3013, who is currently 32 weeks 5 days. She is followed in the High Risk Obstetrical Clinic secondary to a history of Subutex use. Notably, she has had appropriate growth but at her last scan 4 weeks ago the amniotic fluid was low-normal at 8.2 cm. She is attempting to wean her Subutex and is doing quite well. She has had some decreased fetal movement recently, although she is able to obtain movement counts. She also complained of some possible leaking. She has not had any large gushes but has noticed that she needs to wear a pad throughout the day due to potential leaking.

Sara is a 40yo, G9 P5035, who was seen for an ultrasound evaluation and consultation for AMA. She overall denies any major-medical disorders. She does have a history of 8 other pregnancies; 5 of which were term uncomplicated deliveries. She has had 3 spontaneous pregnancy losses but they have been scattered in between her 5 term deliveries. She therefore is grand multiparous and would be at an increased risk for postpartum hemorrhage. Overall currently at this time she has no complaints.

Jane is a 45yo, G2 P1001, who was seen for an ultrasound evaluation and consultation. She does have AMA but conceived during embryo transfer with a donor egg that is age 32. The father of the baby is 62. She does smoke vapor nicotine cigarettes. She has not smoked regular cigarettes for the past couple of years. She also does have asthma but is currently asymptomatic. She reportedly has had some seizures in the past but her last one occurred in 2007, about 9-10 years ago and she has not been treated for over 7 years and at this point in time is doing well and therefore medication would not be indicated at this point in time. She does have one previous delivery in 2013 that was by cesarean delivery. Lastly, she does have some issues with chronic back pain following a car accident and injuries in the past. Currently, however, she is only on acetaminophen by report. Overall, on today’s assessment she has no complaints other than she states that she has had some headaches off/on for the past couple of weeks.