Absent Fetal Movement Response with a Blunted Cardioacceleratory Fetal Response to External Vibratory Acoustic Stimulation in a Fetus with the Pena-Shokeir Syndrome (Fetal Akinesia and Hypokinesia Sequence)

Abstract

We present a case that describes a partial fetal response to external vibratory acoustic stimulation in that, although no fetal movements were elicited, a blunted, brief positive cardioacceleratory response was noted. This fetus exhibited features of the Pena-Shokeir syndrome, characterized by skeletal neurogenic atrophy, yet with a normal auditory system at autopsy. This observation may suggest that the prolonged increase in the basal fetal heart noted after fetal vibratory acoustic stimulation is sustained by active fetal movements, absent in this fetus due to joint contractures.

Prenatal features of Pena-Shokeir sequence with atypical response to acoustic stimulation

“…Because it is well established that both fetal movement and fetal heart rate acceleration as indicators of well‐oxygenated CNS can be provoked by acoustic stimulation, the fact that only the heart rate response without movement was observed in our case would suggest that Pena‐Shokeir sequence is a peripheral pathologic disorder. Our observation was consistent with that reported by Sherer et al, who showed a brief positive cardioacceleratory response with acoustic stimulation of a fetus with FDAS. In addition, Mulder et al reported the case of a fetus with FADS with normal baseline fetal heart rate and its variation, suggesting intact central neurologic system.…”

Pena‐Shokeir phenotype (Fetal akinesia deformation sequence) revisited

“…At least eight families and 22 cases have been reported (Pena and Shokeir, 1974 [familial]; Punnett et al, 1974;Pena and Shokeir, 1976 [familial]. MacMillan et al (1985;familial), Toriello et al (1985;familial), Lindhout et al (1985; Family VII cases 8 and 9), Shenker et al (1985;familial), Ohlsson et al (1988), Agapitos et al (1988), Itoh et al (1991; case 1), Sherer et al (1992; familial case), Ajayi et al (1995;familial), and Yfantis et al (2002;case 3) and appear to have this classic subtype. Lindhout et al, 1985 (family VI) Erdl et al, 1989Hageman et al, 1987Erdl et al, 1989Lindhout et al, 1985 (families 6, 7) Elias et al, 1978Ochi et al, 2001Persutte et al, 1988Skrupske et al, 1996 Absent Pyramidal Traits Bisceglia et al, 1987Polymicrogyri Lindhout et al, 1985Choi et al, 1986Vuopala et al, 1994Hevner et al, 1996Lazjuk et al, 1978 Lammer et al, 1989Lammer et al, 1989Lindhout et al, 1985Landau et al, 2003Pena Shokeir, 1976Lindhout et al, 1985Sherer et al, 1992Mease, 1976<...>…”

“…Prenatal diagnosis of FADS has been reported as early as 12 weeks' gestation related to edema and abnormal limb positioning (Miskin et al, 1979;MacMillan et al, 1985;Shenker et al, 1985;Gagnon et al, 1986;Goldberg et al, 1986;Muller and de Jong, 1986;Johnson et al, 1987;Morse et al, 1987;Socol et al, 1987;Katzenstein et al, 1988;Persutte, 1988;Genkins et al, 1989;Grubben et al, 1990;Sherer et al, 1992;Bacino et al, 1993;Ajayi et al, 1995;Sepulveda et al, 1995;Hyett et al, 1997;Ochi et al, 2001;Witters et al, 2002;Makrydimas et al, 2004). Fetal movement begins centrally at approximately 8 weeks, moving outward and downward so that all limb segments are moving by 12 weeks.…”

Abnormal Nonstress Test yet Otherwise Reassuring Biophysical Profile in a Compromised Fetus with Severe Antepartum Intracranial Hemorrhage

“…Abnormal fetal testing, either nonstress tests or abnormal responses to vibroacoustic stimulation in fetuses with congenital abnormalities, have been reported previously [7][8][9]. Performance of the BPP in fetuses with structural or chromosomal abnormalities is unclear, due to the wide variation of underlying pathophysiologic processes in these fetuses [1].…”